Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects

Abstract Purpose: To study the genetic basis and clinical manifestations of Wolfram syndrome in a multi-affected family. Methods: Complete clinical examinations including urological, ophthalmic, neurological, and endocrinologic assessment were performed for three affected family members. Genomic DNA...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Mehraban Mirrahimi, Sare Safi, Maryam Mohammadzadeh, Azadeh Doozandeh, Fatemeh Suri
Formato:	article
Lenguaje:	EN
Publicado:	Knowledge E 2021
Materias:	variable clinical manifestations wfs1 gene wolfram syndrome Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/c6e33f8814c74ab7802c31e7383e0242
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:c6e33f8814c74ab7802c31e7383e0242
record_format	dspace
spelling	oai:doaj.org-article:c6e33f8814c74ab7802c31e7383e02422021-11-09T08:05:35ZVariable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects2008-20102008-322X10.18502/jovr.v16i4.9750https://doaj.org/article/c6e33f8814c74ab7802c31e7383e02422021-10-01T00:00:00Zhttps://doi.org/10.18502/jovr.v16i4.9750https://doaj.org/toc/2008-2010https://doaj.org/toc/2008-322XAbstract Purpose: To study the genetic basis and clinical manifestations of Wolfram syndrome in a multi-affected family. Methods: Complete clinical examinations including urological, ophthalmic, neurological, and endocrinologic assessment were performed for three affected family members. Genomic DNA was extracted from peripheral blood leukocytes with salting out method and all WFS1 exons and their flanking regions were sequenced. Candidate variation was screened for segregation in the pedigree by Sanger sequencing. Results: A known pathogenic missense mutation in WFS1 gene (c.1885C > T which leads to p.Arg629Trp in the encoded protein) was identified in all affected individuals. Both clinical and genetic investigations confirmed Wolfram syndrome diagnosis with variable phenotypic features. Conclusion: Identical mutations in the Wolfram syndrome causative gene can lead to variable manifestations of the syndrome even in the same family. Although the medical findings and clinical examination are imperative for the diagnosis of Wolfram syndrome, genetic testing is useful to confirm the diagnosis, especially in cases with possible reduced penetrance of the characteristic signs.Mehraban MirrahimiSare SafiMaryam MohammadzadehAzadeh DoozandehFatemeh SuriKnowledge Earticlevariable clinical manifestationswfs1 genewolfram syndromeOphthalmologyRE1-994ENJournal of Ophthalmic & Vision Research, Vol 16, Iss 4, Pp 602-610 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	variable clinical manifestations wfs1 gene wolfram syndrome Ophthalmology RE1-994
spellingShingle	variable clinical manifestations wfs1 gene wolfram syndrome Ophthalmology RE1-994 Mehraban Mirrahimi Sare Safi Maryam Mohammadzadeh Azadeh Doozandeh Fatemeh Suri Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects
description	Abstract Purpose: To study the genetic basis and clinical manifestations of Wolfram syndrome in a multi-affected family. Methods: Complete clinical examinations including urological, ophthalmic, neurological, and endocrinologic assessment were performed for three affected family members. Genomic DNA was extracted from peripheral blood leukocytes with salting out method and all WFS1 exons and their flanking regions were sequenced. Candidate variation was screened for segregation in the pedigree by Sanger sequencing. Results: A known pathogenic missense mutation in WFS1 gene (c.1885C > T which leads to p.Arg629Trp in the encoded protein) was identified in all affected individuals. Both clinical and genetic investigations confirmed Wolfram syndrome diagnosis with variable phenotypic features. Conclusion: Identical mutations in the Wolfram syndrome causative gene can lead to variable manifestations of the syndrome even in the same family. Although the medical findings and clinical examination are imperative for the diagnosis of Wolfram syndrome, genetic testing is useful to confirm the diagnosis, especially in cases with possible reduced penetrance of the characteristic signs.
format	article
author	Mehraban Mirrahimi Sare Safi Maryam Mohammadzadeh Azadeh Doozandeh Fatemeh Suri
author_facet	Mehraban Mirrahimi Sare Safi Maryam Mohammadzadeh Azadeh Doozandeh Fatemeh Suri
author_sort	Mehraban Mirrahimi
title	Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects
title_short	Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects
title_full	Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects
title_fullStr	Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects
title_full_unstemmed	Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects
title_sort	variable expressivity of wolfram syndrome in a family with multiple affected subjects
publisher	Knowledge E
publishDate	2021
url	https://doaj.org/article/c6e33f8814c74ab7802c31e7383e0242
work_keys_str_mv	AT mehrabanmirrahimi variableexpressivityofwolframsyndromeinafamilywithmultipleaffectedsubjects AT saresafi variableexpressivityofwolframsyndromeinafamilywithmultipleaffectedsubjects AT maryammohammadzadeh variableexpressivityofwolframsyndromeinafamilywithmultipleaffectedsubjects AT azadehdoozandeh variableexpressivityofwolframsyndromeinafamilywithmultipleaffectedsubjects AT fatemehsuri variableexpressivityofwolframsyndromeinafamilywithmultipleaffectedsubjects
_version_	1718441244567273472

Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects

Ejemplares similares