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A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder

18 Dec 2015

Abstract excerpt

Approximately 10-15% of intellectual disability (ID) cases are caused by genetic aberrations affecting chromosome X, a condition termed X-linked ID (XLID). Examination by whole-exome sequencing of two male siblings with microcephaly and suspected XLID with an unknown genetic basis revealed that they were both hemizygous for a predicted pathogenic variant (p.Ala897Val) causing a non-synonymous substitution of an...

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PMID: 26893841
DOI: 10.3892/br.2015.559

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