A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability

• Published in: Clinical genetics Vol. 98; no. 3; pp. 288 - 292
• Main Authors: Hamdan, Nadine, Mehawej, Cybel, Sebaaly, Ghada, Jalkh, Nadine, Corbani, Sandra, Abou‐Ghoch, Joelle, De Backer, O., Chouery, Eliane
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.09.2020
• Subjects: Cell division; Cell survival; Chromosomes; Cognitive ability; consanguinity; Genetic diversity; gonadal dysfunction; Hearing loss; Intellectual disabilities; Mutation; Neurodevelopmental disorders; Nonsense mutation; syndromic intellectual disability; whole exome sequencing; consanguinity; syndromic intellectual disability; gonadal dysfunction; whole exome sequencing

Intellectual disability (ID) is a neurodevelopmental disorder characterized by limitations in both intellectual and behavioral functioning. It can occur in non‐syndromic and syndromic forms involving multiple organs. While the majority of genetic variants linked to ID are de novo, inherited variants...