A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2

摘要: X-linked deafness is a rare cause of hereditary hearing impairment. We have identified family with dominant sensorineural impairment, characterized by incomplete penetrance and variable expressivity in carrier females, that linked to the Xp21.2, which contains Duchenne muscular dystrophy (DMD) locus. The auditory impairment affected males was congenital, bilateral, profound, sensorineural, affecting all frequencies, without evidence radiographic abnormality temporal bone. Adult females manifested mild-to-moderate high-frequency delayed onset during adulthood. Eighteen commercially available polymorphic markers from X chromosome, generating 10-15-cM map, were initially used for identification candidate region. DXS997, located within DMD gene, generated two-point LOD score 2.91 at {theta} = 0, every mother heterozygous this Recombination events DXS992 (located locus, 3{prime} exon 50 dystrophin gene) DXS1068 (5{prime} brain promoter observed. No recombination noted following locus: 5{prime}DYS II, intron 44, 50. There no clinical or Becker any member. It ismore » likely represents new locus on when mutated results nonsyndromic loss distinct heterogeneous group losses been previously described. 57 refs., 6 figs., 1 tab.« less