A Novel Compound Heterozygous Variant in the <scp><i>ABHD12</i></scp> Gene Cause <scp>PHARC</scp> Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype

This study expands the spectrum of pathogenic variants and phenotype for PHARC syndrome and suggests genetic testing is necessary for a definitive diagnosis of PHARC syndrome.

Authors

Yuanyuan Lian (ORCID: https://orcid.org/0000-0001-7072-351X)
Xueli Wu
Meijiao Ma
Xunlun Sheng (ORCID: https://orcid.org/0000-0003-4102-3092)
Wenming Wang (ORCID: https://orcid.org/0000-0002-6652-5964)
Jinhai Ma
Weining Rong

Institutions

Ningxia Hui Autonomous Region Peoples Hospital (CN)
Ningxia Medical University (CN)

Publication Details

Journal: Molecular Genetics & Genomic Medicine
Published: 2025-02-01
DOI: https://doi.org/10.1002/mgg3.70055
Citations: 2
Primary Topic: Connexins and lens biology
Type: article
Field-Weighted Citation Impact: 1.61

Funders

National Natural Science Foundation of China

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article

A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype

Yuanyuan Lian, Xueli Wu, Meijiao Ma, Xunlun Sheng et al.

Feb 1, 2025

2 citations

Molecular Genetics & Genomic Medicine

Connexins and lens biology

1.61

article

A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype

Yuanyuan Lian, Xueli Wu, Meijiao Ma, Xunlun Sheng, Wenming Wang, Jinhai Ma, Weining Rong

February 1, 2025article en

2 citations

Abstract

This study expands the spectrum of pathogenic variants and phenotype for PHARC syndrome and suggests genetic testing is necessary for a definitive diagnosis of PHARC syndrome.

Molecular Genetics & Genomic MedicineVol. 13(2)

Ningxia Hui Autonomous Region Peoples Hospital (CN), Ningxia Medical University (CN)

National Natural Science Foundation of China

Good health and well-being

Openalex Percentile: Top 19%

Connexins and lens biology

1.61

DOI Open Access PDF OpenAlex

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A Novel Compound Heterozygous Variant in the <scp><i>ABHD12</i></scp> Gene Cause <scp>PHARC</scp> Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype — Yuanyuan Lian, Xueli Wu, et al. · Molecular Genetics & Genomic Medicine (2025) | TGRS Research Map | TGRS