Senior-loken syndrome : a novel NPHP5 gene mutation in a family from Kuwait
Joint Authors
Muarrafi, Makkiyah J.
al-Mulla, Fahd
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 15, Issue 2 (30 Apr. 2014), pp.203-207, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2014-04-30
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Topics
Abstract EN
Background : Rare 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 report : Here, 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.
Conclusion : Identification 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.
American Psychological Association (APA)
Muarrafi, Makkiyah J.& al-Mulla, Fahd. 2014. Senior-loken syndrome : a novel NPHP5 gene mutation in a family from Kuwait. The Egyptian Journal of Medical Human Genetics،Vol. 15, no. 2, pp.203-207.
https://search.emarefa.net/detail/BIM-374348
Modern Language Association (MLA)
Muarrafi, Makkiyah J.& al-Mulla, Fahd. Senior-loken syndrome : a novel NPHP5 gene mutation in a family from Kuwait. The Egyptian Journal of Medical Human Genetics Vol. 15, no. 2 (Apr. 2014), pp.203-207.
https://search.emarefa.net/detail/BIM-374348
American Medical Association (AMA)
Muarrafi, Makkiyah J.& al-Mulla, Fahd. Senior-loken syndrome : a novel NPHP5 gene mutation in a family from Kuwait. The Egyptian Journal of Medical Human Genetics. 2014. Vol. 15, no. 2, pp.203-207.
https://search.emarefa.net/detail/BIM-374348
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 206-207
Record ID
BIM-374348