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De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome.

Human mutation - 1 Oct 2020

Kao Hsiao-Jung, Chiang Hung-Lun, Chen Hsiao-Huei, Fan Pi-Chuan, Tu Yi-Fang, Chou Yen-Yin, Hwu Wuh-Liang, Lin Chien-Ling, Kwok Pui-Yan, Lee Ni-Chung

Abstract excerpt

Full genome analysis of a young girl with deafness, dystonia, central hypomyelination, refractory seizure, and fluctuating liver function impairment revealed a heterozygous, de novo variant in the BCAP31 gene on chromosome Xq28 (NM_001256447.2:c.92G>A), mutations of which caused the X-linked recessive severe neurologic disorder deafness, dystonia, and cerebral hypomyelination. Reverse transcription-polymerase...

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PMID: 32652807
DOI: 10.1002/humu.24080

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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