title: Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impairment.
abstract: BACKGROUND
  X-linked hearing impairment is clinically and genetically a heterogeneous disease. Although many disorders manifest with hearing loss, a limited number of sex-linked loci and only one gene (POU3F4) have been shown to be implicated in X-linked non-syndromic hearing impairment. In the present study, we have performed a clinical and genetic analysis of a Chinese family with X-linked non-syndromic hearing loss, with emphasis on audiological findings and genomic mapping.
  
  
  METHODS
  The clinical features of Family JX01 were evaluated by physical and audiometric examination in eighteen family members. Mutation screening of POU3F4 was identified by polymerase chain reaction (PCR) amplification and sequencing. Molecular evaluation consisted of X-chromosome wide genotyping by microsatellite makers (STR), followed by analyzing using MLINK computer program.
  
  
  RESULTS
  Five affected males demonstrated bilateral, symmetrical sensorineural and profound hearing loss. The hearing impairment started prelingual. The female carriers did not have any complain of hearing loss, however, two of them were tested with milder loss with high frequency. No causative mutations in POU3F4 gene were detected by DNA sequencing. Linkage analysis indicated that the responsible gene was linked to locus DXS1227 (maximum lod score = 2.04 at theta = 0).
  
  
  CONCLUSIONS
  The affected males in Family JX01 have profound prelingual sensorineural hearing impairment. In addition, two female carriers showed mild to moderate hearing losses. However, none of females complained of any hearing loss. Analysis of hereditary deafness in this family mapped most compatibly to the Xq27.2.
authors.affiliation: Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
authors.forename: Bing
authors.initials: B
authors.lastname: Han
authors.forename: Jing
authors.initials: J
authors.lastname: Cheng
authors.forename: Shu-Zhi
authors.initials: SZ
authors.lastname: Yang
authors.forename: Ju-Yang
authors.initials: JY
authors.lastname: Cao
authors.forename: Wei-Dong
authors.initials: WD
authors.lastname: Shen
authors.forename: Fei
authors.initials: F
authors.lastname: Ji
authors.forename: Dong-Yang
authors.initials: DY
authors.lastname: Kang
authors.forename: Xin
authors.initials: X
authors.lastname: Zhang
authors.forename: Pu
authors.initials: P
authors.lastname: Dai
authors.forename: Hui-Jun
authors.initials: HJ
authors.lastname: Yuan
mesh_terms: D044466:Asian People / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D005838:Genotype; D034381:Hearing Loss / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype