Clinical and genetic heterogeneity in X-linked deafness.
The use of molecular techniques in respect of the rare X-linked non-syndromic form of genetic deafness demonstrates that this is a genetically heterogeneous disorder, with evidence for at least two separate gene loci on the X chromosome. Audiological heterogeneity in this condition is emphasized by the observation of both mixed deafness and sensorineural deafness in pedigrees showing evidence for linkage to Xq13-q21. The importance and shortcomings of the audiogram in assessing females who are known gene carriers is discussed.
Reardon
W
W
Mothercare Department of Paediatric Genetics, Institute of Child Health, London, UK.
Middleton-Price
H R
HR
Malcolm
S
S
Phelps
P
P
Bellman
S
S
Luxon
L
L
Martin
J A
JA
Bumby
A
A
Pembrey
M E
ME
D000293:Adolescent; D000328:Adult; D000368:Aged; D001301:Audiometry, Pure-Tone; D002648:Child; D002869:Chromosome Aberrations / Q000209:etiology / Q000235:genetics*; D025063:Chromosome Disorders; D003638:Deafness / Q000209:etiology / Q000235:genetics*; D005190:Family; D005260:Female; D008040:Genetic Linkage; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D015336:Molecular Probe Techniques; D010375:Pedigree; D012737:Sex Factors; D014960:X Chromosome