Nephropathy, Progressive, With Deafness

Clinical Features

Prakash et al. (2003) described an Asian Indian family with autosomal dominant progressive nephropathy, with features of both focal segmental glomerulosclerosis (see 603278) and Alport syndrome (104200). Seven members of the family were affected, and there was male-to-male transmission. Two members had end-stage renal disease (ESRD). Renal biopsies showed both FSGS lesions and thin glomerular basement membranes. Five of the 7 affected individuals also had sensorineural deafness that involved both low and high frequencies in some members.

Mapping

In a genomewide scan of an Asian Indian family with autosomal dominant progressive nephropathy, Prakash et al. (2003) observed significant evidence of linkage for chromosome 11q24, with a multipoint lod score of 3.2 for marker D11S4464 at theta = 0.0. Linkage was excluded to the region 2q36-q37, where the genes COL4A3 (120070) and COL4A4 (120131), mutant in autosomal recessive Alport syndrome (203780), reside. Linkage was also excluded to 22q11.2, the location of the MYH9 gene (160775), which is mutant in some cases of Fechtner syndrome (see 155100). Linkage was further excluded to FSGS loci FSGS1 (603278) on 19q13 and FSGS3 (607832) on 11q22.