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Article

A novel frameshift variant leads to familial osteopetrosis with variable phenotypes in a Chinese Han consanguineous family.

BMC medical genomics - 24 Feb 2025

Liu Mengxiao, Zheng Hao, Li Zhixiang, Pang Runfei, Niu Yang, Yang Lei, Zhang Zhenxiang, Xia Jianguo, Pang Xiuhong

Abstract excerpt

Osteopetrosis, a group of highly heterogeneous genetic bone disorders, is characterized by deafness, increased bone density, hepatosplenomegaly, pancytopenia and intellectual disability. Osteopetrosis can be divided into three subtypes: autosomal recessive osteopetrosis (ARO), intermediate autosomal recessive osteopetrosis (IARO), and autosomal dominant osteopetrosis (ADO). CLCN7 has been reported to be the most...

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Identifiers

PMID: 39994654
DOI: 10.1186/s12920-025-02101-y
PMCID: PMC11853305

Genes

CLCN7
ADO

Variants

Provenance

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