We report mild-to-moderate neurosensory hearing loss and severe childhood autosomal
recessive muscular dystrophy with adhalin-deficiency in two siblings from a Bulgarian
sibship of Turkish origin. Microsatellite analysis excluded linkage to the adhalin
gene, mutations of which cause limb girdle muscular dystrophy (LGMD) 2D, but was compatible
with linkage to the gene locus of LGMD 2C on chromosome 13q12. Compound heterozygosity
of the affected siblings was detected in this chromosomal region. A severe autosomal
recessive form of neurosensory deafness has been linked to the same region (locus
NSRD1) which is now contained in a 7 Mb YAC contig. Using polymorphic markers and
STS PCR primers mapping in this contig, we did not find evidence for major rearrangements
in the suspected region. These preliminary findings are not in favor of, but do not
completely exclude a contiguous gene syndrome in these cases. Therefore, we consider
a potential role of the putative 13q12 gene product and/or adhalin in neurosensory
hearing.
Limb-girdle muscular dystrophy (LGMD) - Non-syndromic recessive deafness (NSRD) -
Adhalin - Dystrophin - Chromosome 13q12
