NDLI: Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	de Moraes, Vanessa Cristine Sousa Dos Santos, Nathalia Zocal Pereira Ramos, Priscila Zonzini Svidnicki, Maria Carolina Costa Melo Castilho, Arthur Menino Sartorato, Edi Lúcia
Spatial Coverage	Brazil
Description	Country affiliation: Brazil Author Affiliation: de Moraes VC ( Center of Molecular Biology and Genetic Engineering (CBMEG), Molecular Biology Laboratory, State University of Campinas - UNICAMP, Campinas, São Paulo, Brazil. moraes.van@gmail.com)
Abstract	UNLABELLED: The SLC26A4 gene has been described as the second gene involved in most cases of sensorineural non-syndromic hearing loss, since the first is the GJB2 gene. Recessive mutations in the SLC26A4 gene encoding pendrin, an anion transporter, are responsible for non-syndromic hearing loss associated with an enlarged vestibular aqueduct (EVA) and Pendred syndrome, which causes early hearing loss and affects the thyroid gland. Typically, the hearing loss is profound and prelingual. However, in some individuals, hearing impairment may develop later in childhood and then progress. Over 200 different SLC26A4 mutations have been reported, with each ethnic population having its own distinctive mutant allele series including a few prevalent founder mutations. OBJECTIVE: Perform the screening of the 20 coding exons of SLC26A4 gene in Brazilian deaf individuals with EVA. PATIENTS AND METHODS: Among the 23 unrelated non-syndromic hearing loss Brazilian patients with EVA, in whom no deafness-causing mutations of the GJB2 gene, the direct sequencing was performed to screen the 20 exons and their flanking regions of the SLC26A4 gene. RESULTS: The sequencing results revealed 9 cases (39%) carrying 13 different SLC26A4 mutations, including 11 known mutations (279delT, V138F, T193I, IVS8+1G>A, T410M, Q413R, R409H, L445W, IVS15+5G>A, V609G, and R776C) and 2 novel mutation (G149R and P142L). CONCLUSION: The SLC26A4 mutations have a high carrying rate in non-syndromic hearing loss Brazilian patients. The identification of a disease-causing mutation can be used to establish a genotypic diagnosis and provide important information to the patients and their families.
File Format	HTM / HTML
ISSN	01655876
Issue Number	3
Volume Number	77
e-ISSN	18728464
Journal	International Journal of Pediatric Otorhinolaryngology
Language	English
Publisher	Elsevier
Publisher Date	2013-03-01
Publisher Place	Ireland
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Otorhinolaryngology Discipline Pediatrics Hearing Loss, Sensorineural Genetics Membrane Transport Proteins Adolescent Adult Brazil Child Child, Preschool Connexins Female Humans Male Mass Screening Middle Aged Molecular Sequence Data Mutation Sequence Analysis, Dna Young Adult Journal Article
Content Type	Text
Resource Type	Article
Subject	Otorhinolaryngology Pediatrics, Perinatology and Child Health

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct.

GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness.

Novel mutations in the SLC26A4 gene.

Mutational analysis of the SLC26A4 gene in Chinese sporadic nonsyndromic hearing-impaired children.

Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes.

Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort

Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients.

High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 gene.

Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.

Similar Documents

Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct.

GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness.

Novel mutations in the SLC26A4 gene.

Mutational analysis of the SLC26A4 gene in Chinese sporadic nonsyndromic hearing-impaired children.

Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes.

Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort

Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients.

High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 gene.

Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.