Life-threatening metabolic alkalosis in Pendred syndrome. [PDF]
Eur J Endocrinol, 2011 INTRODUCTION: Pendred syndrome, a combination of sensorineural deafness, impaired organification of iodide in the thyroid and goitre, results from biallelic defects in pendrin (encoded by SLC26A4), which transports chloride and iodide in the inner ear ...
Kandasamy N +4 more
europepmc +3 more sources
Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss. [PDF]
J Clin Lab AnalWhole exome sequencing in a consanguineous Iranian family with autosomal recessive non‐syndromic hearing loss revealed a novel homozygous frameshift mutation, c.3713dupA (p.Asp1238Glufs*10), in the LOXHD1 gene. This mutation, located in exon 24, results in a premature stop codon and a truncated protein. Sanger sequencing confirmed co‐segregation of the
Katiraei SHF +4 more
europepmc +2 more sources
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the gene [PDF]
Korean Journal of Pediatrics, 2010 Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and
Won Ik Choi +3 more
doaj +1 more source
A Family of H723R Mutation for Associated with Enlarged Vestibular Aqueduct Syndrome [PDF]
Clinical and Experimental Otorhinolaryngology, 2009 Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter (Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791).
SungHee Kim +8 more
doaj +1 more source
Pendred syndrome in Tunisia [PDF]
, 2010 SummaryObjectivesWe report a clinical and genetic study of three consanguineous Tunisian families affected by Pendred syndrome.Patients and methodsThree families from the south of Tunisia were identified as affected by Pendred syndrome.
Ayadi, H. +6 more
core +1 more source
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects
BMC Medical Genetics, 2018 Background Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be ...
Renata Watanabe Nonose +5 more
doaj +1 more source
The Diverse Genetic Landscape of Hearing Impairment in South African Families. [PDF]
Clin GenetSouth African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Bharadwaj T +10 more
europepmc +2 more sources
CT-Scans of Cochlear Implant Patients with Characteristics of Pendred Syndrome
Cellular Physiology and Biochemistry, 2013 Background: Sensorineural hearing loss (SNHL) in newborns is estimated with an incidence around 1:10,000 per year and is divided into syndromic and non-syndromic forms.
Sebastian Roesch +3 more
doaj +1 more source
Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene.
PLoS ONE, 2020 Single Nucleotide Polymorphisms (SNPs) are the most common candidate mutations in human beings that play a vital role in the genetic basis of certain diseases.
Mirza Jawad Ul Hasnain +8 more
doaj +1 more source
Familial Follicular-Cell Derived Carcinoma
Frontiers in Endocrinology, 2012 Follicular cell-derived well-differentiated thyroid cancer, papillary (PTC) and follicular thyroid carcinomas (FTC) compose 95% of all thyroid malignancies.
Eun Ju eSon, Vania eNosé
doaj +1 more source