Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct

Yongbo Yu; Yang Yang; Jie Lu; Yaqiong Jin; Yeran Yang; Enyu Hong; Jin Shi; Feng Chen; Shujing Han; Ping Chu; Yongli Guo; Xin Ni

추천

검색

자료유형: 학술저널

저자정보: Yongbo Yu Yang Yang Jie Lu Yaqiong Jin Yeran Yang Enyu Hong Jin Shi Feng Chen Shujing Han Ping Chu Yongli Guo Xin Ni

저널정보: 대한이비인후과학회 Clinical and Experimental Otorhinolaryngology Clinical and Experimental Otorhinolaryngology 제12권 제1호

발행연도: 2019.1

수록면: 50 - 57 (8page)

이용수

📌

연구주제

📖

연구배경

🔬

연구방법

🏆

연구결과

초록· 키워드

오류제보하기

Objectives. To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families. Methods. Sanger sequencing of all coding exons in SLC26A4 (encoding Pendrin protein) was performed on the two patients, their sibling and parents respectively. To predict and visualize the potential functional outcome of the novel variant, model building, structure analysis, and in silico analysis were further conducted. Results. The results showed that the proband from family I harbored a compound heterozygote of SLC26A4 c.1174A>T (p.N392Y) mutation and c.1181delTCT (p.F394del) variant in exon 10, potentially altering Pendrin protein structure. In family II, the proband was identified in compound heterozygosity with a known mutation of c.919-2A>G in the splice site of intron 7 and a novel mutation of c.1023insC in exon 9, which results in a frameshift and translational termination, consequently leading to truncated Pendrin protein. Sequence homology analysis indicated that all the mutations localized at high conservation sites, which emphasized the significance of these mutations on Pendrin spatial organization and function. Conclusion. In summary, this study revealed two compound heterozygous mutations (c.1174A>T/c.1181delTCT; c.919-2A>G/c.1023insC) in Pendrin protein, which might account for the deafness of the two probands clinically diagnosed with EVA. Thus this study contributes to improve understanding of the causes of hearing loss associated with EVA and develop a more scientific screening strategy for deafness.

참고문헌 (29)

참고문헌 신청

Morton CC / 2006 / Newborn hearing screening : a silent revolution / N Engl J Med 354(20):2151~2164

Bitner-Glindzicz M / 2002 / Hereditary deafness and phenotyping in humans / Br Med Bull 63:73~94

Lin YH / 2017 / A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss / Sci Rep 7(1):7551

Korver AM / 2017 / Congenital hearing loss / Nat Rev Dis Primers 3:16094

Du W / 2014 / Associations between GJB2, mitochondrial 12S rRNA, SLC26A4 mutations, and hearing loss among three ethnicities / Biomed Res Int 2014:746838

함께 읽어보면 좋을 논문

논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!