alexa Identification of Novel Wsf1 Mutations in a Sicilian Ch
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Research Article

Identification of Novel Wsf1 Mutations in a Sicilian Child with Wolfram Syndrome

Giuseppe Pizzolanti1, Laura Tomasello1, Antonina Coppola1, Maria Pitrone1, Concetta Baiamonte1, Alessandro Ciresi1,
Renata Lorini2, Walter Arancio1 and Carla Giordano1*

1Laboratory of Molecular Endocrinology, Di.Bi.M.I.S, University of Palermo, Italy

2Clinica Pediatrica, Istituto Giannina Gaslini, University of Genoa, Italy

These authors contributed equally to this article

*Corresponding Author:
Carla Giordano
Laboratory of Molecular Endocrinology
Section of Endocrinology, Di.Bi.M.I.S
Piazza delle Cliniche 290127 Palermo, Italy
Tel: +390916552109
Fax: +390916552123
E-mail: [email protected]

Received date: July 25, 2014; Accepted date:September 23, 2014; Published date: September 29, 2014

Citation: Pizzolanti G, Tomasello L, Coppola A, Pitrone M, Baiamonte C, et al. (2014) Identification of Novel Wsf1 Mutations in a Sicilian Child with Wolfram Syndrome. J Genet Syndr Gene Ther 5:245. doi:10.4172/2157-7412.1000245

Copyright: © 2014 Pizzolanti G, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

 

Abstract

Wolfram Syndrome (WS) is a rare hereditary disease with autosomal recessive inheritance with incomplete penetrance. It is characterized by diabetes mellitus associated with progressive optic atrophy. The diagnosis is essentially clinical and mutation analysis is used to confirm the diagnosis. In the present study we describe the clinical and molecular features of a diabetic child carrying two novel WFS1 mutations. The Sicilian proband and his non-affected family were studied. Ophthalmologic examination included: visual acuity determination and funduscopy, optical coherent tomography, retinal fluorangiography, perimetry and electroretinogram. Molecular methods: automatic sequencing of PCR amplified WFS1 gene fragments and qRT-PCR analysis of WFS1 transcripts. 3 WSF1 mutations have been identified in the proband. One allele carries 2 paternally inherited mutations (c.1332 C>G and c.1631C>G) in exon-8, never annotated before, in heterozygosis with one “de novo” classic mutation (c.505 G>A) in exon-5. In addition, we report an unexpected molecular feature: higher WFS1 mRNA levels in the proband compared to the father.

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