A total of 33 isolates of Fusarium sp. were isolated from soil samples collected from a mangrove forest in an area in Kampung Pantai Acheh, Balik Pulau, Pulau Pinang, Malaysia. The isolates were isolated using soil dilution, direct isolation and debris isolation techniques. The debris isolation technique yielded the most isolates, with a total of 22 Fusarium isolates. Based on identification using morphological characteristics, three Fusarium species were identified: F. solani, F. oxysporum and F. verticillioides. F. solani (91%) was the most common species recovered from the mangrove soil samples, followed by F. oxysporum (6%) and F. verticillioides (3%).
Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene, SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carrying SATB1 variants identified overt genotype-phenotype relationships, associated with different pathophysiological mechanisms, established by functional assays. Missense variants in the CUT1 and CUT2 DNA-binding domains result in stronger chromatin binding, increased transcriptional repression, and a severe phenotype. In contrast, variants predicted to result in haploinsufficiency are associated with a milder clinical presentation. A similarly mild phenotype is observed for individuals with premature protein truncating variants that escape nonsense-mediated decay, which are transcriptionally active but mislocalized in the cell. Our results suggest that in-depth mutation-specific genotype-phenotype studies are essential to capture full disease complexity and to explain phenotypic variability.