A. Chen et al., NEW GENE FOR AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING-LOSS MAPS TO EITHER CHROMOSOME 3Q OR 19P, American journal of medical genetics, 71(4), 1997, pp. 467-471
Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most co
mmon form of prelingual inherited hearing impairment. A small consangu
ineous family with this disorder was ascertained through the Institute
of Basic Medical Sciences in Madras, India. Conditions such as rubell
a, prematurity, drug use during pregnancy, perinatal trauma, and menin
gitis were eliminated by history. Audiometry was performed to confirm
severe-to-profound hearing impairment in affected persons. After exclu
ding linkage to known DFNB genes, two genomic DNA pools, one from the
affected persons and the other from their non-affected siblings and th
e parents, were used to screen 165 polymorphic markers evenly spaced a
cross the autosomal human genome. Two regions showing homozygosity-by-
descent in the affected siblings were identified on chromosomes 3q21.3
-q25.2 and 19p13.3-p13.1, identifying one (or possibly both) as the si
te of a novel ARNSHL gene. (C) 1997 Wiley-Liss, Inc.