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RBMX, 23-BP DEL, EX9 AND Mental retardation X-linked syndromic 11

Significance: Pathogenic
ClinVar: RCV000412659

Variant: RBMX, 23-BP DEL, EX9

Type: Variant
Allele: RBMX, 23-BP DEL, EX9 359052
Gene:
Type: Deletion
References: OMIM: 300199.0001

Condition

Disease: Mental retardation X-linked syndromic 11

Citation

    In all affected males from a family with X-linked syndromic mental retardation-11 (MRXS11; 300238) originally reported by Shashi et al. (2000), Shashi et al. (2015) identified a hemizygous 23-bp deletion in exon 9 of the RBMX gene, resulting in a frameshift and premature termination. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the Exome Sequencing Project database or in 1,300 controls. Functional studies and studies on patient cells were not performed.
PMID:10677307, PMID:25256757