Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

Sai Prasad; Karen A Kölln; Robert A Cucci; Richard C Trembath; Guy Van Camp; Richard J H Smith

doi:10.1002/ajmg.a.20272

Back

Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

Journal article

Peer reviewed

Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

Sai Prasad, Karen A Kölln, Robert A Cucci, Richard C Trembath, Guy Van Camp and Richard J H Smith

American journal of medical genetics. Part A, Vol.124A(1), pp.1-9

01/01/2004

DOI: 10.1002/ajmg.a.20272

PMID: 14679580

View Online

Abstract

Mutations in SLC26A4 cause Pendred syndrome, an autosomal-recessive disorder characterized by sensorineural deafness and goiter, and DFNB4, a type of autosomal recessive nonsyndromic deafness in which, by definition, affected persons do not have thyromegaly. The clinical diagnosis of these two conditions is difficult, making mutation screening of SLC26A4 a valuable test. Although screening can be accomplished in a variety of ways, all techniques are not equally accurate, timely or cost effective. We found single-strand conformational polymorphism analysis (SSCP) to be 63% effective in detecting mutations a panel of different SLC26A4 allele variants when compared to data from direct sequencing. Because direct sequencing can be time consuming and expensive, especially for a gene with 21 exons, we studied DHPLC as an alternative screening method. We found DHPLC as accurate and reliable as direct sequencing but to be more rapid and cost effective. In addition, we report 11 novel disease-causing allele variants of SLC26A4.

Diagnosis, Differential

Genetic Testing

Humans

Hearing Loss, Sensorineural - genetics

Chromatography, High Pressure Liquid

DNA Primers

Sulfates

Sequence Analysis, DNA

Syndrome

Polymorphism, Genetic

Goiter - genetics

Polymorphism, Single-Stranded Conformational

Carrier Proteins - genetics

Hearing Loss, Sensorineural - diagnosis

Biological Transport

DNA Mutational Analysis

Membrane Transport Proteins

Sensitivity and Specificity

Goiter - diagnosis

Details

Title: Subtitle: Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations
Creators: Sai Prasad - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA
Karen A Kölln
Robert A Cucci
Richard C Trembath
Guy Van Camp
Richard J H Smith
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.124A(1), pp.1-9
DOI: 10.1002/ajmg.a.20272
PMID: 14679580
NLM abbreviation: Am J Med Genet A
ISSN: 1552-4825
eISSN: 1552-4833
Publisher: United States
Grant note: DC 02842 / NIDCD NIH HHS
Language: English
Date published: 01/01/2004
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006458502771

Metrics

22 Record Views

54 Times Cited - Web of Science