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Abstract #69012 Published in IGR 18-1
The p.(Glu809Lys) mutation in the WFS1 gene is associated with the occurrence of the Wolfram-like syndrome-WFSL: a case report
Prochazkova D; Hruba Z; Konecna P; Skotakova J; Fajkusova LJournal of clinical research in pediatric endocrinology 2016; 8: 482-483
BACKGROUND: The Wolfram-like syndrome-WFSL is a rare autosomal dominant disease characterised by the triad: congenital progressive hearing loss, diabetes mellitus and optic atrophy. CASE REPORT: The case of a boy with the juvenile form of diabetes mellitus, which clinically matched the symptoms of the Wolfram syndrome, was studied using molecular-genetic methods. At the age of 3¼ years diabetes mellitus was diagnosed in a boy with severe psychomotor retardation, failure to thrive, a dysmorphic face with Peters anomaly type III (i.e. posterior central defect with stromal opacity of the cornea, adhering stripes of the iris and cataract with corneolenticular adhesion); congenital glaucoma; megalocornea; severe hearing impairment to deafness; one-sided deformity of the auricle with atresia of the bony and soft external auditory canal; non-differentiable eardrum; missing os incus; and hypothyreosis and nephrocalcinosis. Molecular-genetic examinations revealed de novo mutation p.(Glu809Lys) in the WFS1 gene. No mutations were proved in the biological parents. CONCLUSIONS: The mutation p.(Glu809Lys) in the WFS1 gene is associated with the occurrence of the Wolfram-like syndrome-WFSL.
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Classification:
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
