A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

摘要: Usher syndrome type 1 describes the association of profound, congenital sensorineural deafness, vestibular hypofunction and childhood onset retinitis pigmentosa. It is an autosomal recessive condition subdivided on basis linkage analysis into types 1A through 1E. 1C maps to region containing genes ABCC8 KCNJ11 (encoding components ATP-sensitive K + (KATP) channels), which may be mutated in patients with hyperinsulinism. We identified three individuals from two consanguineous families severe hyperinsulinism, profound enteropathy renal tubular dysfunction. The molecular disorder a homozygous 122-kb deletion 11p14-15, includes part overlaps locus for DFNB18. centromeric boundary this gene shown syndrome, hence assigned name USH1C. pattern expression USH1C protein consistent clinical features exhibited by contiguous isolated 1C.