title: [Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome].
abstract: OBJECTIVE
  To explore the molecular etiology of two pedigrees affected with type II Waardenburg syndrome (WS2) and to provide genetic diagnosis and counseling.
  
  
  METHODS
  Blood samples were collected from the proband and his family members. Following extraction of genomic DNA, the coding sequences of PAX3, MITF, SOX10 and SNAI2 genes were amplified with PCR and subjected to DNA sequencing to detect potential mutations.
  
  
  RESULTS
  A heterozygous deletional mutation c.649_651delAGA in exon 7 of the MITF gene has been identified in all patients from the first family, while no mutation was found in the other WS2 related genes including PAX3, MITF, SOX10 and SNAI2.
  
  
  CONCLUSIONS
  The heterozygous deletion mutation c.649_651delAGA in exon 7 of the MITF gene probably underlies the disease in the first family. It is expected that other genes may also underlie WS2.
authors.affiliation: Key Laboratory of Genetics and Birth Health of Hunan Province, the Family Planning Institute of Hunan Province, Changsha, Hunan 410126, P.R. China. chenyong0008@sina.com.
authors.forename: Yong
authors.initials: Y
authors.lastname: Chen
authors.forename: Fuwei
authors.initials: F
authors.lastname: Yang
authors.forename: Hexin
authors.initials: H
authors.lastname: Zheng
authors.forename: Ganghua
authors.initials: G
authors.lastname: Zhu
authors.forename: Peng
authors.initials: P
authors.lastname: Hu
authors.forename: Weijing
authors.initials: W
authors.lastname: Wu
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D055757:SOXE Transcription Factors / Q000235:genetics; D017384:Sequence Deletion; D000071250:Snail Family Transcription Factors; D014157:Transcription Factors / Q000235:genetics; D014849:Waardenburg Syndrome / Q000145:classification / Q000175:diagnosis / Q000235:genetics*
chemical_list: D051739:Microphthalmia-Associated Transcription Factor; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; C000604408:SNAI2 protein, human; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors; D000071250:Snail Family Transcription Factors; D014157:Transcription Factors