Relevance to Autism

Application of a modified transmission disequilibrium test to 13,052 male ASD probands from the Simons Simplex Collection and the SPARK cohort and 2,295 male sibling controls in Wang et al., 2023 identified MAGEC3 as a gene displaying significant overtransmission of rare X-linked damaging variants to ASD probands versus male sibling controls (P = 2.10E-07, chromosome-X-wide Bonferroni corrected P = 0.00017); this gene also passed exome-wide significance (exome-wide Bonferroni corrected P = 0.0041). A study examining rare hemizygous knockouts in male ASD probands had previously identified the same MAGEC3 nonsense variant (p.Gln193Ter) in two separate male probands; this variant was not observed in female ASD probands or in either male or female controls in this study (Lim et al., 2013). Additional hemizygous variants in MAGEC3 have also been identified in male ASD probands from the AGRE cohort, including a frameshift variant identified in both ASD-affected brothers in a multiplex family (Chahrour et al., 2012; Cirnigliaro et al., 2023).

Molecular Function

This gene is a member of the MAGEC gene family. The members of this family are not expressed in normal tissues, except for testis, and are expressed in tumors of various histological types. The MAGEC genes are clustered on chromosome Xq26-q27.

External Links

References