METHODS: Genome-wide linkage analysis was carried out on eight large extended families of NSCL/P with the total of 91 individuals among Malay population using microarray platform. Based on linkage analyses findings, copy number variation (CNV) of LPHN2, SATB2, PVRL3, COL21A1, and TOX3 were identified in four large extended families that showed linkage evidence using quantitative polymerase chain reaction (qPCR) as for a validation purpose. Copy number calculated (CNC) for each genes were determined with Applied Biosystems CopyCallerTM Software v2.0. Normal CNC of the target sequence expected was set at two.
RESULTS: Genome-wide linkage analysis had discovered several genes including TOX3 and COL21A1 in four different loci 4p15.2-p16.1, 6p11.2-p12.3, 14q13-q21, and 16q12.1. There was significant decreased, p
RESULTS: A significant nonparametric linkage (NPL) score was detected in family 100. Other suggestive NPL and logarithm of the odds (LOD) scores were attained from families 50, 58, 99 and 100 under autosomal recessive mode. Heterogeneity LOD (HLOD) score ≥ 1 was determined for all families, confirming genetic heterogeneity of the population and indicating that a proportion of families might be linked to each other. Several candidate genes in linkage intervals were determined; LPHN2 at 1p31, SATB2 at 2q33.1-q35, PVRL3 at 3q13.3, COL21A1 at 6p12.1, FOXP2 at 7q22.3-q33, FOXG1 and HECTD1 at 14q12 and TOX3 at 16q12.1.
CONCLUSIONS: We have identified several novel and known candidate genes for nonsyndromic cleft lip and/or palate through genome-wide linkage analysis. Further analysis of the involvement of these genes in the condition will shed light on the disease mechanism. Comprehensive genetic testing of the candidate genes is warranted.
DESIGN: A descriptive cross-sectional multicenter study based on a study questionnaire was conducted of parents of patients with cleft lip and/or palate.
SETTING: Three centers providing cleft care from different regions in Malaysia: the national capital of Kuala Lumpur, east coast of peninsular Malaysia, and East Malaysia on the island of Borneo.
PARTICIPANTS: Parents/primary caregivers of patients with cleft lip and/or palate.
RESULTS: There were 295 respondents from different ethnic groups: Malays (58.3%), indigenous Sabah (30.5%), Chinese (7.1%), Indian (2.4%), and indigenous Peninsular Malaysia and Sarawak (1.7%). Malay participants reported that attributing causes of cleft to God's will, superstitious beliefs that the child's father went fishing when the mother was pregnant or inheritance. Sabahans parents reported that clefts are caused by maternal antenatal trauma, fruit picking, or carpentry. The Chinese attribute clefts to cleaning house drains, sewing, or using scissors. Cultural background was reported by 98.3% of participants to pose no barrier in cleft treatment. Those from lower socioeconomic and educational backgrounds were more likely to encounter difficulties while receiving treatment, which included financial constraints and transportation barriers.
CONCLUSION: There is a wide range of cultural beliefs in the multiethnic society of Malaysia. These beliefs do not prevent treatment for children with cleft. However, they face challenges while receiving cleft treatment, particularly financial constraints and transportation barriers. Such barriers are more likely experienced by parents from lower income and lower education backgrounds.
SEARCH METHODS: Electronic and manual search was done up to October 2017.
ELIGIBILITY CRITERIA: Clinical and observational studies that compared GPP to control; patients without GPP evaluated either before or after the age for secondary bone graft (SBG).
DATA COLLECTION AND ANALYSIS: Studies selection was done by 2 authors independently. Risk ratio and mean difference with 95% confidence intervals (CIs) were calculated using random-effects models.
RESULTS: Thirteen articles were included in the review. All studies were at high risk of bias. Poorer alveolar bone quality was found in the GPP group compared to the SBG group. The pooled data showed a statistically significant increase in the incidence of Bergland type III in the GPP group compared to SBG (risk ratio: 11.51, 95% CI: 3.39-35.15). As for facial growth, GPP group resulted in a more retruded maxillary position (as indicated by "Sella-Nasion-Subspinale" angle [SNA value]) compared to control group by -1.36 (CI: -4.21 to 1.49) and -1.66 (CI: -2.48 to -0.84) when evaluated at 5 and 10 years, respectively. The protocol for presurgical infant orthopedics used in conjunction with the GPP procedure might have affected the results of the alveolar bone and facial growth outcomes.
CONCLUSIONS: Definitive conclusions about the effectiveness of GPP cannot be drawn. Very weak evidence indicated that GPP might not be an efficient method for alveolar bone reconstruction for patients with unilateral and bilateral CLP. Gingivoperiosteoplasty surgery could lead to maxillary growth inhibition in patients with CLP.