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Senior-Loken syndrome: A novel NPHP5 gene mutation in a family from Kuwait

Authors
  • Marafie, Makia J
  • Al-Mulla, Fahd1, 2, 3, 4, 5
  • 1 Kuwait Medical Genetics Centre
  • 2 Maternity Hospital
  • 3 Department of Pathology
  • 4 Faculty of Medicine
  • 5 Kuwait University
Type
Published Article
Journal
Egyptian Journal of Medical Human Genetics
Publisher
Elsevier
Publication Date
Jan 01, 2013
Accepted Date
Dec 15, 2013
Volume
15
Issue
2
Pages
203–207
Identifiers
DOI: 10.1016/j.ejmhg.2013.12.003
Source
Elsevier
Keywords
License
Unknown

Abstract

BackgroundRare autosomal recessive disorders of variable severity are segregating in many highly consanguineous families from the Arab population. One of these deleterious diseases is Senior-Loken syndrome, a hereditary heterogeneous multiorgan disorder, which combines nephronophthisis with retinal dystrophy, leading to blindness and eventually end stage renal failure. This disorder has been reported in many cases worldwide, including two unrelated families from Arabian Gulf countries, which share the gene pool with Kuwait. Case reportHere, we are reporting two children from an Arab family with a novel frameshift mutation found in IQCB1/NPHP5 gene; c.1241-1242delTC, predicted to cause protein termination p.Leu414HisfsStop4, and describing the associated clinical features. ConclusionIdentification of this pathogenic mutation helped in confirmation of the clinical diagnosis and in providing a proper pre-marital genetic counselling and testing for a couple embarking on marriage from this highly consanguineous high-risk family.

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