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Article

A rare transcript homozygous variants in CLRN1(USH3A) causes Usher syndrome type 3 in a Chinese family.

Orphanet journal of rare diseases - 20 Sept 2024

Wang Suyang, Xu Chen Yang, Zhu Yiming, Ding Wenjuan, Hu Jieyu, Xu Baicheng, Guo Yufen, Liu Xiaowen

Abstract excerpt

BACKGROUND: Usher syndrome type 3 (USH3) is an autosomal recessive inherited disorder caused by pathogenic variants in the CLRN1 gene. OBJECT: To evaluate the genotype-phenotype correlation of Usher syndrome type 3 (USH3) in a deaf-blind Chinese family of 3 generations with 2 patients. METHODS: We collected blood samples and clinical data from all of the pedigree family members. Genomic DNA was isolated from...

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Identifiers

PMID: 39304915
DOI: 10.1186/s13023-024-03348-x
PMCID: PMC11414144

Genes

CLRN1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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