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Clinical and Molecular Assessment of 13 Iranian Families With Wolfram Syndrome Publisher Pubmed



Sobhani M1 ; Amin Tabatabaiefar M2, 3 ; Ghafourifard S4 ; Rajab A5 ; Mozafarpour S6 ; Nasrniya S2 ; Kajbafzadeh AM6 ; Nooridaloii MR7
Authors

Source: Endocrine Published:2019


Abstract

Purpose: 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. Methods: 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. Results: 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. Conclusions: 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. © 2019, Springer Science+Business Media, LLC, part of Springer Nature.
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