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Article

Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.

BMC pediatrics - 3 Oct 2024

Wang Yishan, Ma Qizhou, Chen Jing, Li Shaoxin, Zheng Feifei, Shi Lei, Li Xiaoshun, Li Sinan, Tong Guanglei, Li Hong

Abstract excerpt

BACKGROUND: X-linked intellectual disability-hypotonic facies syndrome-1 (MRXHF1) and Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome are caused by pathogenic variant in the ATRX gene, a member of the switch/sucrose non-fermentable (SWI-SNF) protein family that exhibits chromatin remodeling activity. These syndromes show a wide spectrum of clinical manifestations, such as distinctive...

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PMID: 39363269
DOI: 10.1186/s12887-024-05088-0
PMCID: PMC11448441

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Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.PMID 39363269Read ↗

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ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.Semantic proximity Read ↗

A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.Semantic proximity Read ↗

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