title: Identification of two heterozygous deafness mutations in SLC26A4 (PDS) in a Chinese family with two siblings.
abstract: OBJECTIVE
  To detect genetic cause of two Chinese siblings (patient 1 and 2) with Pendred syndrome.
  
  
  METHODS
  Patients and their parents underwent clinical and genetic evaluations. To identify genetic mutations, sequencing of SLC26A4 was carried out.
  
  
  METHODS
  Two siblings and their parents.
  
  
  RESULTS
  Clinical evaluations showed that patient 1 suffered from bilateral postlingual progressive sensorineural hearing loss with enlarged vestibular aqueduct and slight diffuse multinodular goiter with euthyroid, and patient 2 suffered from bilateral prelingual progressive sensorineural hearing loss with enlarged vestibular aqueduct and no goiter with euthyroid. Furthermore, the sequence analysis of SLC26A4 indicated that either of the two siblings presented a compound heterozygote for the c.919A>G mutation in the splice site of intron 7 and for the c.1548insC mutation in exon 14. Their mother was a heterozygous carrier of the splice site mutation in intron 7, and their father was a heterozygous carrier of the insertion mutation in exon 14.
  
  
  CONCLUSIONS
  Mutation analysis identified a compound heterozygous mutation (c.919A>G/c.1548insC) in SLC26A4 in two Chinese siblings with Pendred syndrome. Also, c.1548insC was first reported in the Chinese population. Although the two siblings from the same family carried the same genotype, they presented different phenotypes.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Nanjing Drum Tower Hospital affiliated to Nanjing University Medical School, Nanjing 210008, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Chen
authors.forename: Qinjun
authors.initials: Q
authors.lastname: Wei
authors.forename: Jun
authors.initials: J
authors.lastname: Yao
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Qian
authors.forename: Yanhong
authors.initials: Y
authors.lastname: Dai
authors.forename: Ye
authors.initials: Y
authors.lastname: Yang
authors.forename: Xin
authors.initials: X
authors.lastname: Cao
authors.forename: Xia
authors.initials: X
authors.lastname: Gao
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001301:Audiometry, Pure-Tone; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D006044:Goiter, Nodular / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D006309:Hearing / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D040941:Heredity; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D000076988:Sulfate Transporters; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters