title: Focal segmental glomerulosclerosis, Coats'-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association.
abstract: We describe the novel association in a girl of nephrotic syndrome due to focal segmental glomerulosclerosis, bilateral sensorineural deafness, basal ganglia calcification, bilateral retinopathy similar to that seen in Coats' disease, with de novo duplication of a subtelomeric region of chromosome 4q35. The chromosomal duplication was identified during investigation of a possible association with features of fascio-scapulo-humeral dystrophy (FSHD). This duplication has not previously been reported with FSGS and adds to the expanding number of genetic associations with steroid-resistant nephrotic syndrome.
authors.affiliation: Renal Unit, Royal Hospital for Sick Children, Glasgow, G3 8SJ, UK. pinkdoc@doctors.org.uk
authors.forename: Ben C
authors.initials: BC
authors.lastname: Reynolds
authors.forename: Richard J L F
authors.initials: RJ
authors.lastname: Lemmers
authors.forename: John
authors.initials: J
authors.lastname: Tolmie
authors.forename: Allan G
authors.initials: AG
authors.lastname: Howatson
authors.forename: David A
authors.initials: DA
authors.lastname: Hughes
mesh_terms: D002675:Child, Preschool; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005500:Follow-Up Studies; D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D009404:Nephrotic Syndrome / Q000235:genetics; D012164:Retinal Diseases / Q000235:genetics*; D013997:Time Factors