Lowe syndrome – Case report with a novel mutation in the oculocerebrorenal gene

Lowe syndrome – Case report with a novel mutation in the oculocerebrorenal gene

The oculocerebrorenal (OCRL) syndrome, also known as Lowe syndrome (LS), is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome. OCRL1 is the gene responsible for LS and encodes an inosi...

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Main Authors: Suman Sethi, Nitin Sethi, Sudhir Mehta, Simran Kaur, Vikas Makkar, P M Sohal
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2020-01-01
Series:Saudi Journal of Kidney Diseases and Transplantation
Online Access:http://www.sjkdt.org/article.asp?issn=1319-2442;year=2020;volume=31;issue=1;spage=285;epage=288;aulast=Sethi
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spelling doaj-d918aa68bdad4a5eb486b9b2b6fac5822020-11-25T00:37:33ZengWolters Kluwer Medknow PublicationsSaudi Journal of Kidney Diseases and Transplantation1319-24422020-01-0131128528810.4103/1319-2442.279955Lowe syndrome – Case report with a novel mutation in the oculocerebrorenal geneSuman SethiNitin SethiSudhir MehtaSimran KaurVikas MakkarP M SohalThe oculocerebrorenal (OCRL) syndrome, also known as Lowe syndrome (LS), is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome. OCRL1 is the gene responsible for LS and encodes an inositol polyphosphate-5-phosphatase. We report a male child from North India, with LS with missense mutation in exon 14 of the OCRL gene.http://www.sjkdt.org/article.asp?issn=1319-2442;year=2020;volume=31;issue=1;spage=285;epage=288;aulast=Sethi
collection DOAJ
language English
format Article
sources DOAJ
author Suman Sethi
Nitin Sethi
Sudhir Mehta
Simran Kaur
Vikas Makkar
P M Sohal
spellingShingle Suman Sethi
Nitin Sethi
Sudhir Mehta
Simran Kaur
Vikas Makkar
P M Sohal
Lowe syndrome – Case report with a novel mutation in the oculocerebrorenal gene
Saudi Journal of Kidney Diseases and Transplantation
author_facet Suman Sethi
Nitin Sethi
Sudhir Mehta
Simran Kaur
Vikas Makkar
P M Sohal
author_sort Suman Sethi
title Lowe syndrome – Case report with a novel mutation in the oculocerebrorenal gene
title_short Lowe syndrome – Case report with a novel mutation in the oculocerebrorenal gene
title_full Lowe syndrome – Case report with a novel mutation in the oculocerebrorenal gene
title_fullStr Lowe syndrome – Case report with a novel mutation in the oculocerebrorenal gene
title_full_unstemmed Lowe syndrome – Case report with a novel mutation in the oculocerebrorenal gene
title_sort lowe syndrome – case report with a novel mutation in the oculocerebrorenal gene
publisher Wolters Kluwer Medknow Publications
series Saudi Journal of Kidney Diseases and Transplantation
issn 1319-2442
publishDate 2020-01-01
description The oculocerebrorenal (OCRL) syndrome, also known as Lowe syndrome (LS), is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome. OCRL1 is the gene responsible for LS and encodes an inositol polyphosphate-5-phosphatase. We report a male child from North India, with LS with missense mutation in exon 14 of the OCRL gene.
url http://www.sjkdt.org/article.asp?issn=1319-2442;year=2020;volume=31;issue=1;spage=285;epage=288;aulast=Sethi
work_keys_str_mv AT sumansethi lowesyndromecasereportwithanovelmutationintheoculocerebrorenalgene
AT nitinsethi lowesyndromecasereportwithanovelmutationintheoculocerebrorenalgene
AT sudhirmehta lowesyndromecasereportwithanovelmutationintheoculocerebrorenalgene
AT simrankaur lowesyndromecasereportwithanovelmutationintheoculocerebrorenalgene
AT vikasmakkar lowesyndromecasereportwithanovelmutationintheoculocerebrorenalgene
AT pmsohal lowesyndromecasereportwithanovelmutationintheoculocerebrorenalgene
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