Compound heterozygote of point mutation and chromosomal microdeletion involving otud6b coinciding with zmiz1 variant in syndromic intellectual disability

• Main Authors: Tim Phetthong, Arthaporn Khongkrapan, Natini Jinawath, Go Hun Seo, Duangrurdee Wattanasirichaigoon
• Other Authors: Faculty of Medicine Ramathibodi Hospital, Mahidol University
• Format: Article
• Published: 2022
• Subjects: Biochemistry, Genetics and Molecular Biology; Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/76002
• Institution: Mahidol University

The OTUD6B and ZMIZ1 genes were recently identified as causes of syndromic intellectual disability (ID) with shared phenotypes of facial dysmorphism, distal limb anomalies, and seizure disorders. OTUD6B-and ZMIZ1-related ID are inherited in autosomal recessive and autosomal dominant patterns, respec...