Molecular and functional testing in case of hereditary hearing loss associated with the SLC26A4 gene

被引：0

作者：

Roesch, Sebastian ^{[1
]}

Bernardinelli, Emanuele ^{[2
]}

Wortmann, Saskia ^{[3
]}

Mayr, Johannes A. ^{[3
]}

Bader, Ingrid ^{[4
]}

Schweighofer-Zwink, Gregor ^{[5
]}

Rasp, Gerd ^{[1
]}

Dossena, Silvia ^{[2
]}

机构：

[1] Paracelsus Med Privatuniv Salzburg, SALK, Univ Klin Hals Nasen Ohrenkrankheiten, Mullner Hauptstr 48, A-5020 Salzburg, Austria

[2] Paracelsus Med Privatuniv Salzburg, Univ Inst Pharmakol & Toxikol, Salzburg, Austria

[3] Paracelsus Med Privatuniv Salzburg, SALK, Univ Klin Kinder & Jugendheilkunde, Salzburg, Austria

[4] Paracelsus Med Privatuniv Salzburg, SALK, Univ Klin Kinder & Jugendheilkunde, Div Klin Genet, Salzburg, Austria

[5] Paracelsus Med Privatuniv Salzburg, SALK, Univ Klin Nukl Med & Endokrinol, Salzburg, Austria

来源：

LARYNGO-RHINO-OTOLOGIE | 2020年 / 99卷 / 12期

关键词：

pendrin; enlarged vestibular aqueduct; Pendred syndrome; hereditary hearing loss; functional testing; GENOTYPE-PHENOTYPE CORRELATION; PENDRED-SYNDROME; VESTIBULAR AQUEDUCT; MEDICAL GENETICS; AMERICAN-COLLEGE; NATURAL-HISTORY; ENLARGEMENT; VARIANTS; GUIDELINES; MUTATIONS;

D O I：

10.1055/a-1190-4173

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

Due to development of molecular techniques at hand, the number of genomic sequence variants detected in patient investigations is rising constantly. The number of potentially involved genes in hereditary hearing loss is rising simultaneously. In this overview, current methods for diagnostic workup on a molecular and functional level for variants of the SLC26A4 gene are described. Based on the description of the physiological function of the resulting protein Pendrin, molecular investigations for interpretation of the function are explained. Based on these investigations, the potential clinical consequences of a variant may be predicted more precisely and simplify routine reporting of a proven genotype and a phenotype, at hand. Finally, subsequent clinical investigations necessary, such as perchlorate discharge test, as well as therapeutic options are discussed.

引用

页码：853 / 862

页数：10

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