Aliases: LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT
Chromosome No: 9
Chromosome Band: 9q34.13
Genetic Category: Rare single gene variant
ASD Reports: 4
Recent Reports: 2
Annotated variants: 17
Associated CNVs: 9
Evidence score: 2
Associated Disorders: |
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Relevance to Autism
Rare inherited loss-of-function and damaging missense variants in the POMT1 gene were identified in ASD probands from the Simons Simplex Collection in Krumm et al., 2015; targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified additional rare inherited variants in this gene in ASD probands. Subsequent Transmission and De Novo Association (TADA) analysis In Guo et al., 2017 identified POMT1 as an ASD candidate gene with a PTADA of 0.007923 in the Chinese ASD case-control cohort and a PTADA of 0.009218 in a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium.
Molecular Function
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Biallelic mutations in the POMT1 gene are associated with muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (OMIM 236670), muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 (OMIM 613155), and muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 (OMIM 609308).