X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.
We report a large two-generation pedigree with seven affected males segregating for an X-linked mixed conductive sensorineural deafness. The patients present with atypical Mondini-like dysplasia, dilated petrous facial canal, dilatation of the internal auditory meatus fully connected with enlarged cochlear canals, and, in one patient, a wide bulbous posterior labyrinth. Obligatory carrier females are mildly affected. Molecular characterization of this family revealed a deletion of locus DXS169, in Xq21.1. Loci DXS72 and DXS26, which, respectively, flank DXS169 proximally and distally, were intact. Since a gene responsible for X-linked progressive mixed deafness with perilymphatic gusher (DFN3) has previously been assigned by deletion mapping to a slightly more distal interval between DXS26 and DXS121, this study indicates either two different deafness genes or the involvement of a very large region in Xq21.
Piussan
C
C
Unité de Génétique Clinique, CHU d'Amiens, France.
Hanauer
A
A
Dahl
N
N
Mathieu
M
M
Kolski
C
C
Biancalana
V
V
Heyberger
S
S
Strunski
V
V
D007758:Ear, Inner / Q000002:abnormalities; D005260:Female; D006312:Hearing Loss, Bilateral / Q000235:genetics*; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012021:Reflex, Abnormal; D013199:Stapes / Q000473:pathology; D013346:Subarachnoid Space / Q000002:abnormalities; D013577:Syndrome; D014960:X Chromosome