Novel compound heterozygous mutations in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct

In order to investigate the genetic causes of hearing loss in a Chinese proband with nonsyndromic hearing loss and enlarged vestibular aqueduct (EVA), we conducted clinical and genetic evaluations in a deaf proband and her parents with normal hearing. 20 exons and flanking splice sites of the SLC26A...

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Veröffentlicht in:	BioScience Trends 2018/10/31, Vol.12(5), pp.502-506
Hauptverfasser:	Zhao, Xuelei, Cheng, Xiaohua, Huang, Lihui, Wang, Xianlei, Wen, Cheng, Wang, Xueyao
Format:	Artikel
Sprache:	eng
Schlagworte:	Asian Continental Ancestry Group - genetics China Deafness - genetics DNA Mutational Analysis enlarged vestibular aqueduct Family Health Female Frameshift Mutation Genotype Healthy Volunteers Hearing Hearing Loss - genetics Heterozygote Humans Infant, Newborn Leucine Male Mutation novel mutation Pedigree Phenotype SLC26A4 Sulfate Transporters - genetics Vestibular Aqueduct - pathology
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