A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

Abstract Background The etiology of intellectual disabilities is diverse and includes both genetic and environmental factors. The genetic causes of intellectual disabilities range from chromosomal aberrations to single gene disorders. The TRAPPC9 gene has been reported to cause autosomal recessive f...

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Bibliographic Details
Main Authors: Mutaz Amin, Cedric Vignal, Esraa Eltaraifee, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Arwa Babai, Iman Elbadi, Doua Mustafa, Rayan Abubaker, Mohamed Mustafa, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy, Imen Dorboz
Format: Article
Language:English
Published: BMC 2022-11-01
Series:BMC Medical Genomics
Subjects:
Autosomal recessive
Intellectual disability
TRAPPC9
Novel
Sudan
Online Access:https://doi.org/10.1186/s12920-022-01354-1

Internet

https://doi.org/10.1186/s12920-022-01354-1

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