Focal segmental glomerulosclerosis, Coats'-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association.
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.
Reynolds
Ben C
BC
Renal Unit, Royal Hospital for Sick Children, Glasgow, G3 8SJ, UK. pinkdoc@doctors.org.uk
Lemmers
Richard J L F
RJ
Tolmie
John
J
Howatson
Allan G
AG
Hughes
David A
DA
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