[Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome].

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[Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):390-392

Authors: Sun D, Mu W, Zhang Y, Gao H, Fang F, Yu M, Zhao L, Zhang J, Mi D, Chang L, Cao Q

Abstract
OBJECTIVE: To analyze mutations of SLC26A4 gene and explore their origins for a patient with enlarge vestibuar aqueduct syndrome.
METHODS: Clinical data and peripheral venous blood samples were collected from the patient and her parents. Genome DNA was extracted from the peripheral blood. All of the 21 exons of the SLC26A4 gene were amplified with PCR and subjected to directly sequencing.
RESULTS: The patient was found to have carried two mutant alleles of the SLC26A4 gene, namely c.1522A to G and c.1229C to T, which were inherited from her father and mother, respectively.
CONCLUSION: SLC26A4 c.1522A to G is likely to be a pathogenic mutation. Above results may facilitate genetic counseling and prenatal diagnosis for this family.

PMID: 28604962 [PubMed - indexed for MEDLINE]

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