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The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity

Baris S, Abolhassani H, Massaad MJ, Al-Nesf M, Chavoshzadeh Z, Keles S, et al.

J Allergy Clin Immunol Pract, 2023 Jan;11(1):158-180.e11.
PMID: 36265766 DOI: 10.1016/j.jaip.2022.10.003

Human inborn errors of immunity (IEI) are a group of 485 distinct genetic disorders affecting children and adults. Signs and symptoms of IEI are heterogeneous, and accurate diagnosis can be challenging and depends on the available human expertise and laboratory resources. The Middle East and North Africa (MENA) region has an increased prevalence of IEI because of the high rate of consanguinity with a predominance of autosomal recessive disorders. This area also exhibits more severe disease phenotypes compared with other regions, probably due to the delay in diagnosis. The MENA-IEI registry network has designed protocols and guidelines for the diagnosis and treatment of IEI, taking into consideration the variable regional expertise and resources. These guidelines are primarily meant to improve the care of patients within the region, but can also be followed in other regions with similar patient populations.

Matched MeSH terms: Consanguinity*
Endogamy in settlement populations of Semai Senoi: potential mate pool analysis and simulation

Fix AG

Soc Biol, 1981 1 1;28(1-2):62-74.
PMID: 7348447
Matched MeSH terms: Consanguinity*
On consanguineous marriages and the genetic load

Chakraborty R, Chakravarti A

Hum Genet, 1977 Apr 07;36(1):47-54.
PMID: 870410

It has been reported that studies of the genetic consequences of inbreeding should adopt a different strategy in populations having a relatively old inbreeding history and where inbreeding levels have varied over time. This contention is tested with a series of 39,495 single-birth records from Bombay, India, collected in a World Health Organization survey on congenital malformations. Our analysis reveals that: 1. the incidence of major malformations is significantly higher among the inbred offspring (1.34%) as compared to that among non-inbred ones (0,81%)--a finding at variance with a previous study in the same area; 2. the inbreeding effect on perinatal mortality (stillbirths and mortality during the first few days of life) is also found to be significant. In view of the above findings, the genetic load as disclosed by inbreeding is computed for perinatal mortality, major malformations and pooling these together. A + B, the measure of the number of lethal equivalents per gamete, is found to be at variance with other reports. Such variability can be ascribed to non-genetic factors. Supporting evidence collected from Brazil and Malaysia in the same survey is also presented.

Matched MeSH terms: Consanguinity*
Familial Paroxysmal Rhabdomyolysis, non-exertional type, in a Malay family - a case report

Hussain Imam Muhammad Ismail, Azizi Omar

Malaysian Journal of Child Health, 1993;5(1):57-61.
MyJurnal

Familial Paroxysmal Rhabdomyolysis of the non-exertional variety is a rare but treatable disorder previously not described in Malaysia. We report 3 Malay siblings of a consanguinous marriage who developed myoglobulinuria during a febrile illness. The first 2 died without being investigated, but the last had creatinine kinase levels of 24,800 UIL suggesting acute rhabdomyolysis. Fasting appears to be a major precipitating factor, and glucose infusions combined with alkaline diuresis may be life-saving.

Matched MeSH terms: Consanguinity
Fulltext Consanguinity and isolated atrial septal defect in North East of Iran

Moghaddam HM, Esfehani RJ, Panah NY, Esfehani AJ

Ann Saudi Med, 2014 6 5;34(2):147-52.
PMID: 24894784 DOI: 10.5144/0256-4947.2014.147

BACKGROUND AND OBJECTIVES: The rate of consanguineous marriage is high in Middle Eastern countries such as Iran. The relationship between consanguineous marriage and congenital heart disease is discussed in some studies, but there is not much data for relationship between atrial septal defect (ASD) and consanguineous marriage. The aim of this study was to evaluate the relationship between consanguineous marriage and ASD echocardiographic characteristics.
DESIGN AND SETTINGS: This was a cross-sectional study approved by Mashhad University of Medical Sciences ethics committee and took place in Mashhad, Iran, for a period of 3 years from August 2008 till September 2011.
METHODS: In this cross-sectional study, 113 ASD patients participated and they were categorized into 3 groups on the basis of family relationship between their parents: first group-"no relationship," second group- "third degree relationship," and third group- "far relationship."
RESULTS: Among the 54 male and 59 female ASD patients, the most prevalent type of ASD was ASD secundum (85.0%) followed by sinus venosus (8.8%). A total of 56% patients were present in the first group and 15% and 29% in the second group and the third group, respectively." The relationship between consanguinity and type of ASD (P < .001) and gender (P < .001 each) was observed. The relationship between the age of onset of disease and consanguinity (P=.003) was also observed.
CONCLUSION: Considering the fact that there is a high prevalence of ASD and consanguineous marriage in Iran and bearing in mind the results of the present study, we recommend educating couples about the outcomes of consanguineous marriage in pre-marriage counseling.

Matched MeSH terms: Consanguinity*
Fulltext A case of neonatal diarrhoea caused by congenital glucose-galactose malabsorption

Lee WS, Tay CG, Nazrul N, Paed M, Chai PF

Med J Malaysia, 2009 Mar;64(1):83-5.
PMID: 19852331 MyJurnal

A five-month-old Indian girl, product of consanguineous marriage, presented with diarrhoea with an onset within two days after birth, severe malnutrition and metabolic acidosis. The diarrhoea persisted even with lactose-free formula, amino acid-based formula and glucose-containing oral rehydration solution, but stopped when fasted. She required prolonged parenteral nutrition. Fructose and glucose tolerance tests were performed, confirming the child was able to absorb and metabolize fructose but not glucose, indicating a diagnosis of glucose-galactose malabsorption. This case illustrate how simple and pertinent clinical observations and laboratory investigations is sufficient to allow a firm diagnosis to be made.

Matched MeSH terms: Consanguinity
Further delineation of Al-Gazali syndrome (multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality) in a Malaysian family

Chan LG, Ting HS

Clin. Dysmorphol., 2005 Jan;14(1):1-5.
PMID: 15602085

We present two siblings from a consanguineous Malaysian family with multiple skeletal abnormalities, anterior segment anomalies of the eye and early lethality. These features are consistent with a syndrome first described by Al-Gazali and we provide further delineation of the syndrome.

Matched MeSH terms: Consanguinity
Fulltext Phylogenetics and population genetics of Plotosus canius (Siluriformes: Plotosidae) from Malaysian coastal waters

Khalili Samani N, Esa Y, Amin SM, Fatin Mohd Ikhsan N

PeerJ, 2016;4:e1930.
PMID: 27231645 DOI: 10.7717/peerj.1930

Plotosus canius (Hamilton, 1822) is a significant marine species in Malaysia from nutritional and commercial perspectives. Despite numerous fundamental research on biological characteristics of P. canius, there are various concerns on the level of population differentiation, genomic structure, and the level of genetic variability among their populations due to deficiency of genetic-based studies. Deficiency on basic contexts such as stock identification, phylogenetic relationship and population genetic structure would negatively impact their sustainable conservation. Hence, this study was conducted to characterize the genetic structure of P. canius for the first time through the application of mitochondrial Cytochrome Oxidase I (COI) gene, cross amplification of Tandanus tandanus microsatellites, and a total of 117 collected specimens across five selected populations of Malaysia. The experimental results of the mitochondrial analysis revealed that the haplotype diversity and nucleotide diversity varied from 0.395-0.771 and 0.033-0.65 respectively. Moreover, the statistical analysis of microsatellites addressed a considerable heterozygote insufficiency in all populations, with average observed heterozygosity (Ho ) value of 0.2168, which was lower than the standard heterozygosity in marine populations (Ho = 0.79). This alongside the high Fis values estimation, high pairwise differentiation among populations and low within population variations are supposed to be associated with small sample size, and inbreeding system. Besides, the significant finding of this study was the sharing of common haplotype KR086940, which reflects a historical genetic connectivity between Peninsular Malaysia and Borneo populations due to the geological history of Southeast Asia during Pleistocene era. Demographic analyses showed that all populations were in an equilibrium state with no significant evidence of population expansion. To put it briefly, the current study has managed to provide an initial genomic database toward understanding of the genetic characterization, phylogenetic, molecular diversification and population structure in P. canius, and should be necessary highlighted for appropriate management and conservation of species. Further studies must be carried out involving more geographical and sampling sites, larger population size per site, and utilization of species specific microsatellites loci.

Matched MeSH terms: Consanguinity
Transposition of the viscera

Monteiro ES

Journal of the Malaya Branch of the British Medical Association, 1940;4:303-13.

1. Three cases of situs inversus are described and the clinical and aetiological factors are discussed briefly.
2. This abnormality occurring in father and son whose family history indicates a great degree of consaguinity seems to support the view held by Cockayne that it is a recessive inheritance.
3. Situs inversus when complete seems to cause no disability. When incomplete as in examples of isolated dextrocardia, congenital heart diseases are commonly seen in association with it. Other congenital malformations may also co-exist. Recently the syndrome of hypertrophic rhinitis, nasal polyposis and sinusitis and bronchiectasis have been encountered in association with transposition of the viscera.

Matched MeSH terms: Consanguinity
Fulltext A tale of two boys: case report on nonconsanguineous siblings with cerebral palsy

Leelavathi, M., Lim, J.L., Ahmad, S.

Medicine & Health, 2014;9(1):74-79.
MyJurnal

Cerebral palsy is a common cause of childhood disability. It has a great impact on parents and caregivers, especially when it reoccurs in the same family. Although familial cerebral palsy is relatively uncommon, cases have been reported among children from consanguineous, non-consanguineous marriages and multiple pregnancies suggesting a possible complex genetic mode of inheritance. Physicians need to be aware of the possibility of familial cerebral palsy for early detection and counseling. We describe a rare case of two male siblings from a non-consanguineous marriage affected by cerebral palsy.

Matched MeSH terms: Consanguinity
Adenosine deaminase polymorphism among the Semai, Temuan, Semelai, and Jakun groups of West Malaysian Orang Asli

Welch QB, Shu LC, Thangavelu S, Lie-Injo EL

Hum. Hered., 1978;28(1):62-5.
PMID: 618819

812 West Malaysian Orang Asli belonging to four ethnic groups were surveyed for adenosine deaminase (ADA; EC 3.5.4.4) using starch gel electrophoresis. Only the common ADA1 and ADA2 alleles were found, with the frequencies of the latter being 0.025, 0.103, 0.115 and 0.028 in the Semai, Semelai, Temuan, and Jakun groups, respectively. A new 'breeding genetic distance' was applied to these gene frequencies and the Semelai and Temuan were found to be more closely related to each other, and to have considerably more evolutionary flexibility on this scale of 'micro-evolution' than the other two groups. The Semai and Jakun were more similar to each other on the basis of these ADA gene frequencies.

Matched MeSH terms: Consanguinity
Fulltext Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1

Abdul Wahab SA, Yakob Y, Abdul Azize NA, Md Yunus Z, Huey Yin L, Mohd Khalid MK, et al.

Biomed Res Int, 2016;2016:4074365.
PMID: 27672653

Glutaric aciduria type 1 (GA1) is an autosomal recessive metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase enzyme encoded by the GCDH gene. In this study, we presented the clinical and molecular findings of seven GA1 patients in Malaysia. All the patients were symptomatic from infancy and diagnosed clinically from large excretion of glutaric and 3-hydroxyglutaric acids. Bidirectional sequencing of the GCDH gene revealed ten mutations, three of which were novel (Gln76Pro, Glu131Val, and Gly390Trp). The spectrum of mutations included eight missense mutations, a nonsense mutation, and a splice site mutation. Two mutations (Gln76Pro and Arg386Gln) were homozygous in two patients with parental consanguinity. All mutations were predicted to be disease causing by MutationTaster2. In conclusion, this is the first report of both clinical and molecular aspects of GA1 in Malaysian patients. Despite the lack of genotype and phenotype correlation, early diagnosis and timely treatment remained the most important determinant of patient outcome.

Matched MeSH terms: Consanguinity
Clinicopathological features in 102 cases of Hirschsprung disease

Ziad F, Katchy KC, Al Ramadan S, Alexander S, Kumar S

Ann Saudi Med, 2006;26(3):200-4.
PMID: 16861859

BACKGROUND: Hirschsprung disease [HD] is a predominantly childhood disorder of intestinal motility with a multifactorial and polygenic etiology. The objective of this study was to document the clinical and pathological features of HD in Kuwait, which has an estimated consanguinity rate of 54%.
METHODS: We analyzed all rectal and colonic biopsies (n=268) for suspected HD identified from the records in the Pathology Department of Al-Sabah Hospital for the period between 1994 and 2004.
RESULTS: One hundred and two patients (87 males and 15 females) had histologically confirmed HD. Fifty-eight (57%) were neonates (<1 month of age), while 21% were more than 4 months old. The diagnosis was based on open biopsy in 11 cases and rectal biopsies in 91 cases. Nine patients with open biopsies presented as intestinal obstruction, necrotizing enterocolitis, or perforation. The extent of the disease was unknown in 13 patients. There were 67 males and 3 females with short segment HD. Nine had long segment, two ultra-short segment and eight total colonic aganglionosis (TCA). Five TCA cases involved the small intestine. A skip area was observed in two cases. Six patients had other anomalies. A positive family history for HD was established in three patients. Two of these were male siblings from a consanguineous marriage and had Waardenburg syndrome.
CONCLUSION: This study has highlighted an exceptionally strong male predominance of short segment and a relatively high frequency (5.6%) of small intestinal involvement in HD in Kuwait. These data call for a more detailed epidemiological study with special emphasis on genetics.

Matched MeSH terms: Consanguinity
Fulltext Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population

Al-Herz W, Chou J, Delmonte OM, Massaad MJ, Bainter W, Castagnoli R, et al.

Front Immunol, 2018;9:3146.
PMID: 30697212 DOI: 10.3389/fimmu.2018.03146

Objective: To present the genetic causes of patients with primary immune deficiencies (PIDs) in Kuwait between 2004 and 2017. Methods: The data was obtained from the Kuwait National Primary Immunodeficiency Disorders Registry. Genomic DNA from patients with clinical and immunological features of PID was sequenced using Sanger sequencing (SS), next generation sequencing (NGS) of targeted genes, whole exome sequencing (WES), and/or whole genome sequencing (WGS). Functional assays were utilized to assess the biologic effect of identified variants. Fluorescence in situ hybridization (FISH) for 22q11.2 deletion and genomic hybridizations arrays were performed when thymic defects were suspected. Results: A total of 264 patients were registered during the study period with predominance of patients with immunodeficiencies affecting cellular and humoral immunity (35.2%), followed by combined immunodeficiencies with associated syndromic features (24%). Parental consanguinity and family history suggestive of PID were reported in 213 (81%) and 145 patients (55%), respectively. Genetic testing of 206 patients resulted in a diagnostic yield of 70%. Mutations were identified in 46 different genes and more than 90% of the reported genetic defects were transmitted by in an autosomal recessive pattern. The majority of the mutations were missense mutations (57%) followed by deletions and frame shift mutations. Five novel disease-causing genes were discovered. Conclusions: Genetic testing should be an integral part in the management of primary immunodeficiency patients. This will help the delivery of precision medicine and facilitate proper genetic counseling. Studying inbred populations using sophisticated diagnostic methods can allow better understanding of the genetics of primary immunodeficiency disorders.

Matched MeSH terms: Consanguinity*
First study of the F508del mutation in Malaysian children diagnosed with cystic fibrosis

Nathan AM, Thong MK, deBruyne J, Ariffin H

J Paediatr Child Health, 2011 Aug;47(8):573-5.
PMID: 21843195 DOI: 10.1111/j.1440-1754.2011.02149.x
Matched MeSH terms: Consanguinity
Factor VII deficiency in an East Indian family

Lopez CG, Thiruselvam A, Hutton RA

Clin Lab Haematol, 1982;4(4):411-5.
PMID: 7166027 DOI: 10.1111/j.1365-2257.1982.tb00486.x
Matched MeSH terms: Consanguinity
Primary immunodeficiency disorders in Kuwait: first report from Kuwait National Primary Immunodeficiency Registry (2004--2006)

Al-Herz W

J Clin Immunol, 2008 Mar;28(2):186-93.
PMID: 18008151

Primary immunodeficiency disorders are heterogeneous group of illnesses that predispose patients to serious complications. Registries for these disorders have provided important epidemiological data and shown both racial and geographical variations. The clinical features of 76 patients with primary immunodeficiency disorders registered in Kuwait National Primary Immunodeficiency Registry from 2004 to 2006 were recorded. Ninety-eight percent of the patients presented in childhood. The prevalence of these disorders in children was 11.98 in 100,000 children with an incidence of 10.06 in 100,000 children. The distribution of these patients according to each primary immunodeficiency category is: combined T and B cell immunodeficiencies (21%), predominantly antibody immunodeficiency (30%), other well defined immunodeficiencies (30%), diseases of immune dysregulation (7%), congenital defects of phagocyte number, function or both (8%), and complement deficiencies (4%). The consanguinity rate within the registered patients was 77%. The patients had a wide range of clinical features affecting different body systems. Primary immunodeficiency disorders are prevalent in Kuwait and have a significant impact into the health system.

Matched MeSH terms: Consanguinity
Fulltext Clinical presentation of congenital adrenal hyperplasia in selected multiethnic paediatric population

Thambiah, Subashini Chellapah, Zalinah Ahmad, Zarida Hambali, Malina Osman, Munia Mohd Zain, Fuziah Md Zain, et al.

Malaysian Journal of Medicine and Health Sciences, 2015;11(1):77-83.
MyJurnal

A clinical descriptive study was done to determine the sociodemographic, laboratory and clinical characteristics of patients with congenital adrenal hyperplasia (CAH) referred to Hospital Putrajaya, a tertiary endocrine centre in Malaysia. Electronic laboratory data of 51 CAH patients were obtained. The demographics and clinical details of the study population were acquired from a questionnaire completed by parents of participants. There were 25 males (49%) and 26 females (51%), of which, 58.8% were Malays. Median age of participants was 4 years whilst median age at diagnosis of CAH was two years. Parental consanguinity was documented in three patients (5.9%). Patients originated from Johor (19.6%), Selangor (19.6%), Negeri Sembilan (17.6%) and Kedah (13.7%). Majority of patients were diagnosed after one week of life (80.4%) although more females were diagnosed under the age of one week compared to males (p=0.041). Most females presented with ambiguous genitalia (42.3%) [p=0.001] whereas 72% of males presented with salt wasting (p=0.003). No significant associations between race and all other variables, though interestingly three Malay patients presented with ambiguous genitalia and hypertension. Equal gender distribution noted as expected in an autosomal recessive condition, although not in keeping with other Asian countries. Early diagnosis in females attributed to obvious genital ambiguity at birth. Varied clinical presentation, although in minority, necessitates genetic studies for prompt diagnosis and treatment. Considering that majority of patients presented with salt wasting and the age at diagnosis was delayed, the introduction of a neonatal screening programme is essential in Malaysia.

Matched MeSH terms: Consanguinity
Fulltext Prevalence and associated factors influencing stunting in children aged 2-5 years in the Gaza Strip-Palestine: a cross-sectional study

El Kishawi RR, Soo KL, Abed YA, Muda WAMW

BMC Pediatr, 2017 12 21;17(1):210.
PMID: 29268788 DOI: 10.1186/s12887-017-0957-y

BACKGROUND: Stunting continues to be a major public health problem in developing countries. It is one of the most important risk factors for morbidity and mortality during childhood. In Palestine, it is another health problem, which adds to the catastrophic issues in the region. This study aimed to determine the prevalence of stunting and its associated factors among preschool children in the Gaza Strip.
METHODS: A cross-sectional study design was conducted in the Gaza Strip. A total of 357 children aged 2-5 years and their mothers aged 18-50 years were recruited. A multistage cluster sampling was used in the selection of the study participants from three geographical areas in the Gaza Strip: Jabalia refugee camp, El Remal urban area, and Al Qarara rural area. A structured questionnaire was used for face- to -face interviews with the respective child's mother to collect sociodemographic information and feeding practice. Anthropometric measurements for children were taken to classify height-for-age (HAZ), while maternal height was measured as well. Descriptive and binary logistic regression analyses were applied to determine the prevalence and associated factors with stunting.
RESULTS: The total prevalence of stunting in this study was 19.6%, with the highest prevalence being (22.6%) in Jabalia refugee camp. It turns out that shorter mothers had increased the odds of stunting in preschool children in the Gaza Strip. Children born to mothers whose height was 1.55-1.60 m or <1.55 m were more likely to be stunted (p = 0. 008), or (p 1.60 m. Moreover, parental consanguinity increased the risk of stunted children (p = 0. 015).
CONCLUSIONS: This study showed the prevalence of stunting was of alarming magnitude in the Gaza Strip. Our results also demonstrated that parental consanguinity and short maternal stature were associated with stunting. Culturally appropriate interventions and appropriate strategies should be implemented to discourage these types of marriages. Policy makers must also raise awareness of the importance of the prevention and control of nutritional problems to combat stunting among children in the Gaza Strip.

Matched MeSH terms: Consanguinity
Phospholipase A2 group v in benign familial fleck retina in a set of triplets

Bin NJ, Heng HM, Poh R, Noor SM, Subrayan V

Retina, 2015 Jun;35(6):1266-72.
PMID: 25549071 DOI: 10.1097/IAE.0000000000000446

To evaluate the association of phospholipase A2, Group V (PLA2G5), with benign familial fleck retina in a consanguineous family with triplets.

Matched MeSH terms: Consanguinity

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