A and Novel Mutation in the Gene in a Chinese Child with Branchio-oto-renal Syndrome

Overview

Journal Intractable Rare Dis Res

Date 2018 Mar 20

PMID 29552445

Citations 7

Authors

Guomin Li

Qian Shen

Li Sun

Haimei Liu

Yu An

Hong Xu

Affiliations

Soon will be listed here.

Abstract

Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterized by branchial cleft fistulae or cysts, preauricular pits, ear malformations, hearing loss, and renal anomalies. Mutations in the human homologue of the Drosophila eyes absent gene () are the most common cause of BOR syndrome. PCR and direct sequencing were used to investigate all of the exons and exon-intron boundaries in the gene in a patient with BOR syndrome from China. The patient was a child who displayed clinical features of BOR syndrome. Analysis of mutations in the gene revealed a novel single base-pair deletion resulting in a truncated protein (c.1381delA; p.R461fs467X), and an analysis of mutations in the family revealed that this mutation was a mutation. This is the first case of BOR syndrome in mainland China to be diagnosed based on clinical manifestations and mutations in the gene. The novel c.1381delA mutation detected here expands the spectrum of known mutations in the gene.

Citing Articles

Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms.

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