Female‐restricted syndromic intellectual disability in a patient from Thailand

摘要

Female‐restricted syndromic intellectual disability (ID) is a neurodevelopmental disorder with developmental delay (DD)/ID, facial dysmorphism, and diverse congenital anomalies comprising heart defects, anal anomalies, choanal atresia, postaxial polydactyly, scoliosis, and brain abnormalities. Loss‐of‐function mutations in the USP9X gene inherited as X‐linked dominance were identified as its etiology in females of different ethnic groups. Here, we report a 15‐year‐old Thai girl harboring a novel de novo heterozygous one‐base pair deletion (c.3508delG, p.Val1170TrpfsX9) in exon 23 of USP9X . Her profound DD, dysmorphic face including attached earlobes, short stature, and congenital malformations including s‐shaped thoracolumbar scoliosis, hip dislocation, and generalized brain atrophy shared common characteristics of X‐linked syndromic ID. We have observed severely malformed oro‐dental organs and a choledochal cyst, which have never been reported. Our study presents the first patient from Thailand expanding the phenotypic and mutational spectra of the syndrome.