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Article

Identification of a Novel AMER1 Variant and Craniofacial Phenotypic Spectrum in Osteopathia Striata with Cranial Sclerosis.

American journal of medical genetics. Part A - 1 Sept 2026

Chen Qing, Wang Xin, Liu Nianke, Yuan Wenjun, Song Yaling

Abstract excerpt

Osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked dominant genetic disorder mediated by variants in the AMER1 gene, characterized primarily by generalized skeletal sclerosis and striated changes. However, research on its craniofacial phenotypes has long been fragmented, lacking systematic pedigree construction and basis for precise management. This study integrates a 16-year follow-up patient...

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Adaptor Proteins, Signal Transducing
Craniofacial Abnormalities
Frameshift Mutation
Genetic Association Studies
Osteosclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tumor Suppressor Proteins

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Identifiers

PMID: 41964124
DOI: 10.1002/ajmg.a.70164

Genes

AMER1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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