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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 01-12-2017 |
Symbol | WFS2 |
Location | 4q24 |
HGNC id | 12763 |
Name | Wolfram syndrome 2 |
Other name(s) | diabetes insipidus, diabetes mellitus, optic atrophy, and deafness 2 |
Corresponding gene | CISD2 |
Other symbol(s) | DIDMOAD2 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | neurology |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| truncated protein
| disrupt messenger RNA splicing by eliminating exon 2, and it results in the introduction of a premature stop codon
| |
Remark(s) | . CISD2 deficiency impairs the activation of Wnt/CTNNB1 signaling and thereby contributes to the pathogeneses of osteopenia and lordokyphosis in WFS2 patients (PMID: 26230298)) |