Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome.
WFS1
Wolfram Syndrome
Journal
Endocrine
ISSN: 1559-0100
Titre abrégé: Endocrine
Pays: United States
ID NLM: 9434444
Informations de publication
Date de publication:
11 2019
11 2019
Historique:
received:
15
03
2019
accepted:
04
07
2019
pubmed:
18
7
2019
medline:
28
5
2020
entrez:
18
7
2019
Statut:
ppublish
Résumé
Wolfram syndrome (WS) is a rare genetic disorder described by a pattern of clinical manifestations such as diabetes mellitus, diabetes insipidus, optic nerve atrophy, sensorineural hearing loss, urinary tract abnormalities, and psychiatric disorders. WFS1 and WFS2 loci are the main genetic loci associated with this disorder. In the current study, we investigated associations between these loci and WS via STR markers and homozygosity mapping in 13 Iranian families with WS. All families were linked to WFS1 locus. Mutation analysis revealed four novel mutations (Q215X, E89X, S168Del, and E391Sfs*51) in the assessed families. Bioinformatics tools confirmed the pathogenicity of the novel mutations. Other identified mutations were previously reported in other populations for their pathogenicity. The current study adds to the mutation repository of WS and shows a panel of mutations in Iranian population. Such panel would facilitate genetic counseling and prenatal diagnosis in families with WS cases.
Identifiants
pubmed: 31313226
doi: 10.1007/s12020-019-02004-w
pii: 10.1007/s12020-019-02004-w
doi:
Substances chimiques
Membrane Proteins
0
wolframin protein
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
185-191Références
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