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Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism
- Source :
- Archives of Endocrinology and Metabolism v.60 n.4 2016, Arquivos de Endocrinologia e Metabolismo, Sociedade Brasileira de Endocrinologia e Metabologia (SBEM), instacron:SBEM, Archives of Endocrinology and Metabolism, Vol 60, Iss 4, Pp 323-327 (2016), Archives of Endocrinology and Metabolism, Volume: 60, Issue: 4, Pages: 323-327, Published: 16 FEB 2016
- Publication Year :
- 2016
- Publisher :
- Archives of Endocrinology and Metabolism, 2016.
-
Abstract
- Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by neonatal screening. The aim of this study was to examine the SLC26A4 mutation spectrum and prevalence among congenital hypothyroidism (CH) patients in the Guangxi Zhuang Autonomous Region of China and to establish how frequently PS causes hearing impairment in our patients with CH. Subjects and methods Blood samples were collected from 192 CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the SLC26A4 gene together with their exon-intron boundaries were screened by next-generation sequencing. Patients with SLC26A4 mutations underwent a complete audiological evaluation including otoscopic examination, audiometry and morphological evaluation of the inner ear. Results Next generation sequencing analysis of SLC26A4 in 192 CH patients revealed five different heterozygous variations in eight individuals (8/192, 4%). The prevalence of SLC26A4 mutations was 4% among studied Chinese CH. Three of the eight were diagnosed as enlargement of the vestibular aqueduct (EVA), no PS were found in our 192 CH patients. The mutations included one novel missense variant p.P469S, as well as four known missense variants, namely p.V233L, p.M147I, p.V609G and p.D661E. Of the eight patients identified with SLC26A4 variations in our study, seven patients showed normal size/location of thyroid gland, and one patients showed a decreased size one. Conclusions The prevalence of SLC26A4 pathogenic variants was 4% among studied Chinese patients with CH. Our study expanded the SLC26A4 mutation spectrum, provided the best estimation of SLC26A4 mutation rate for Chinese CH patients and indicated the rarity of PS as a cause of CH.
- Subjects :
- Male
0301 basic medicine
Mutation rate
Pathology
Pendred syndrome
Endocrinology, Diabetes and Metabolism
Thyrotropin
lcsh:Medicine
Gene mutation
lcsh:Diseases of the endocrine glands. Clinical endocrinology
Gastroenterology
Cohort Studies
0302 clinical medicine
Thyroid dyshormonogenesis
Prevalence
Missense mutation
biology
Congenital hypothyroidism
Sulfate Transporters
Female
Sensorineural hearing loss
Goiter, Nodular
China
medicine.medical_specialty
Hearing Loss, Sensorineural
030209 endocrinology & metabolism
Vestibular Aqueduct
03 medical and health sciences
Neonatal Screening
Internal medicine
SLC26A4
otorhinolaryngologic diseases
medicine
Humans
Genetic Testing
gene mutations
lcsh:RC648-665
business.industry
lcsh:R
Infant, Newborn
Membrane Transport Proteins
Pendrin
medicine.disease
Thyroxine
030104 developmental biology
Mutation
biology.protein
sense organs
business
Subjects
Details
- ISSN :
- 23593997
- Volume :
- 60
- Database :
- OpenAIRE
- Journal :
- Archives of Endocrinology and Metabolism
- Accession number :
- edsair.doi.dedup.....b6489c20d86e990e2a87eedaaeff9a80