title: [Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type II a syndrome].
abstract: OBJECTIVE
  To determine the genetic cause for a patient featuring decreased pigmentation of the skin and iris, hearing loss and multiple congenital anomalies.
  
  
  METHODS
  Routine chromosomal banding was performed to analyze the karyotype of the patient and his parents. Single nucleotide polymorphism array (SNP array) was employed to identify cryptic chromosome aberrations, and quantitative real-time PCR was used to confirm the results.
  
  
  RESULTS
  Karyotype analysis has revealed no obvious anomaly for the patient and his parents. SNP array analysis of the patient has demonstrated a 3.9 Mb deletion encompassing 3p13p14.1, which caused loss of entire MITF gene. The deletion was confirmed by quantitative real-time PCR. Clinical features of the patient have included severe bilateral hearing loss, decreased pigmentation of the skin and iris and multiple congenital anomalies.
  
  
  CONCLUSIONS
  The patient, carrying a 3p13p14.1 deletion, has features of Tietz syndrome/Waardenburg syndrome type IIa. This case may provide additional data for the study of genotype-phenotype correlation of this disease.
authors.affiliation: Shanghai Institute for Pediatric Research, Xinhua Hospital, Medical School of Shanghai Jiaotong University, Shanghai 200092, P. R. China. xiaobingdoctor@163.com.
authors.forename: Huanhuan
authors.initials: H
authors.lastname: Wang
authors.forename: Lifang
authors.initials: L
authors.lastname: Tang
authors.forename: Jingmin
authors.initials: J
authors.lastname: Zhang
authors.forename: Qin
authors.initials: Q
authors.lastname: Hu
authors.forename: Yingwei
authors.initials: Y
authors.lastname: Chen
authors.forename: Bing
authors.initials: B
authors.lastname: Xiao
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D014849:Waardenburg Syndrome / Q000235:genetics*
chemical_list: C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor