A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.
Nat Genet
; 6(1): 24-8, 1994 Jan.
Article
in En
| MEDLINE
| ID: mdl-8136828
ABSTRACT
Non-syndromic, recessively inherited deafness is the most predominant form of severe inherited childhood deafness. Until now, no gene responsible for this type of deafness has been localized, due to extreme genetic heterogeneity and limited clinical differentiation. Linkage analyses using highly polymorphic microsatellite markers were performed on two consanguineous families from Tunisia affected by this form of deafness. The deafness was profound, fully penetrant and prelingual. A maximum two-point lod score of 9.88 (theta = 0.001) was found with a marker detecting a 13q locus (D13S175). Linkage was also observed to the pericentromeric 13q12 loci D13S115 and D13S143. These data map this neurosensory deafness gene to the same region of chromosome 13q as the gene for severe, childhood autosomal recessive muscular dystrophy.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosomes, Human, Pair 13
/
Deafness
Limits:
Child
/
Female
/
Humans
/
Male
Country/Region as subject:
Africa
Language:
En
Journal:
Nat Genet
Journal subject:
GENETICA MEDICA
Year:
1994
Type:
Article
Affiliation country:
France