Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes

Molecular Medicine Reports

Volumn 14, Issue 1, 2016, Pages 319-324

  Li, Yunlong ^a,b   Zhu, Baosheng ^a,b  

^a KUNMING UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b FIRST PEOPLE S HOSPITAL OF YUNNAN PROVINCE   (China)

Author keywords

Large vestibular aqueduct syndrome; Mutations; Nonsyndromic deafness

Indexed keywords

CONNEXIN 26; CONNEXIN 31; MESSENGER RNA PRECURSOR; PENDRIN; RNA 12S; CARRIER PROTEIN; GAP JUNCTION PROTEIN; GJB3 PROTEIN, HUMAN; SLC26A4 PROTEIN, HUMAN;

ARTICLE; AUDITORY THRESHOLD; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHILD; CHILDHOOD DISEASE; CHINESE; CHROMOSOME ABERRATION; COMPUTER ASSISTED TOMOGRAPHY; EVOKED BRAIN STEM AUDITORY RESPONSE; EVOKED RESPONSE; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CONSERVATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; INTRON; LARGE VESTIBULAR AQUEDUCT SYNDROME; MALE; OTOACOUSTIC EMISSION; PHENOTYPE; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; VESTIBULAR DISORDER; ALLELE; AMINO ACID SEQUENCE; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDY; GENETICS; HEARING LOSS; HETEROZYGOTE; MUTATION; PEDIGREE;

ALLELES; AMINO ACID SEQUENCE; CONNEXINS; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC ASSOCIATION STUDIES; HEARING LOSS; HETEROZYGOTE; HUMANS; MEMBRANE TRANSPORT PROTEINS; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84973444021     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr.2016.5280     Document Type: Article

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