MOLECULAR STUDY WOLFRAM SYNDROME, WFS1 GENE, SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4201

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
Wolfram syndrome (WFS) is a rare neurodegenerative disorder characterized by type I diabetes mellitus, diabetes insipidus, optical atrophy and neurological signs. About 300 cases have been described, and prevalence is estimated at 1/160,000. The minimum ascertainment criterion for WFS is the association of juvenile-onset type I diabetes mellitus (DM), without antibodies and usually appearing during the first decade of life, with onset of bilateral optic atrophy before the second decade. The optical atrophy only affects the peripheral vision. About 70%-75% of patients also develop diabetes insipidus, and about two-thirds present with some degree of sensorineural deafness affecting the high frequencies. WFS is transmitted in an autosomal recessive manner. Two causative genes have been identified: WFS1 (4p16.1), coding for Wolframin, which is localized to the endoplasmic reticulum and plays a role in calcium homeostasis, and CISD2 encoding the CDGSH iron sulfur domain-containing protein 2. Mutations in CISD2 have only been identified in three consanguineous families of Jordanian descent and WFS1 mutations are responsible for the majority of the WFS phenotypes. More than 150 different WFS1 mutations have been described in different populations, most of them in exon 8. In families in which mutations in WFS1 or CISD2 have been characterized, clinical diagnosis and carrier identification can be performed. Heterozygous carriers of WFS1 mutations are eight times more likely to be hospitalized for psychiatric disorders than non-carriers.
Links:
OMIM Entry - # 222300 - WOLFRAM SYNDROME 1; WFS1
Orphanet- Wolfram syndrome
OMIM Entry - - 606201 - WFS1 GENE; WFS1

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