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Article

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

BMC medical genomics - 8 Nov 2022

Amin Mutaz, Vignal Cedric, Eltaraifee Esraa, Mohammed Inaam N, Hamed Ahlam A A, Elseed Maha A, Babai Arwa, Elbadi Iman, Mustafa Doua, Abubaker Rayan, Mustafa Mohamed, Drunat Severine, Elsayed Liena E O, Ahmed Ammar E, Boespflug-Tanguy Odile, Dorboz Imen

Abstract excerpt

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 forms of intellectual disabilities in 56 patients from consanguineous and non-consanguineous families around the world....

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Identifiers

PMID: 36348459
DOI: 10.1186/s12920-022-01354-1
PMCID: PMC9644490

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