title: Usher syndrome in four siblings from a consanguineous family of Pakistani origin.
abstract: Usher syndrome is a heterogeneous group of disorders of autosomal recessive inheritance characterized by retinitis pigmentosa and congenital sensorineural hearing loss. Two types are accepted clinically: type I is associated with profound congenital deafness with progressive pigmentary retinopathy and total loss of vestibular function. Type II is a milder form, with moderate-to-profound hearing loss and a milder form of retinitis pigmentosa. Vestibular function is preserved. A total of five loci have been identified as accounting for the two distinct phenotypic presentations. We describe a consanguineous family of Pakistani origin whose four children all are affected with Usher syndrome type I. DNA analysis showed non-linkage to any of the loci already identified as tightly linked to the Usher syndrome type I.
authors.affiliation: McGill University Medical School, Montreal, Quebec.
authors.forename: I
authors.initials: I
authors.lastname: Trop
authors.forename: M D
authors.initials: MD
authors.lastname: Schloss
authors.forename: R
authors.initials: R
authors.lastname: Polomeno
authors.forename: V
authors.initials: V
authors.lastname: Der Kaloustian
mesh_terms: D002170:Canada / Q000208:ethnology; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003241:Consanguinity; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000151:congenital / Q000235:genetics; D006801:Humans; D008297:Male; D010154:Pakistan; D010290:Parents; D012174:Retinitis Pigmentosa / Q000150:complications* / Q000235:genetics; D013577:Syndrome