Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

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Research Article, J Genet Disor Genet Rep Vol: 6 Issue: 4

Intergenerational De Novo Spinocerebellar Ataxia 7 CAG Enlargement in a Moroccan Family Detected by Triplet Primed PCR

Martínez-Laso J1,2*, Giménez-Pardo A3,4, Jimenez E5, Gallego J3,4, Cervera I1, Ayuso C3,4, Lorda I3,4 and Trujillo-Tiebas MJ3,4

1Unidad de Inmunogenética y Diagnóstico molecular. Centro Nacional de Microbiología. Instituto de Salud Carlos III. Majadahonda, Madrid, Spain

2Unidad de Inmunología. Complejo Hospitalario Universitario Insular Materno- Infantil. Las Palmas de Gran Canaria. Spain

3Department of Genetics, Instituto de Investigación Sanitaria-University Hospital Fundación Jiménez Díaz, UAM (IIS-FJD), Madrid, Spain

4Centro de Investigacion Biomedica en Red (CIBER) de Enfermedades Raras, ISCIII, Madrid, Spain

5Servicio de Neuropediatría, Hospital Rey Juan Carlos, Madrid, Spain

*Corresponding Author : Jorge Martínez-Laso
Unidad de Inmunología, Complejo Hospitalario Universitario Insular Materno-Infantil, Avda del Sur, s/n, 35016, Las Palmas de Gran Canaria, Spain
Tel: 34-928444061
E-mail: [email protected]

Received: September 12, 2017 Accepted: October 16, 2017 Published: October 23, 2017

Citation: Martínez-Laso J, Giménez-Pardo A, Jimenez E, Gallego J, Cervera I, et al. (2017) Intergenerational De Novo Spinocerebellar Ataxia 7 CAG Enlargement in a Moroccan Family Detected by Triplet Primed PCR. J Genet Disor Genet Rep 6:4. doi: 10.4172/2327-5790.1000163

Abstract

The autosomal dominant cerebellar ataxias (ADCA) are a genetically and clinically heterogeneous group of neurodegenerative. Spinocerebellar ataxia type 7 (SCA7) is a progressive neurodegenerative disorder with retinal degeneration caused by a CAG expansion in the ATXN7 gene located in chromosome 3p. The normal range of CAG triplets is 4-34 considering diseased over 37 to 306. In order to study a possible de novo large expansion, a triplet primed SCA7 PCR assay was made in a family with characteristic clinical symptoms. This assay confirmed the disease number of triplets for the father and detects a second allele in his son (patient) with a large expansion (>200 triplets). In conclusion, the specific SCA triplet primed PCR is a robust, reliable, and can be used in this case to describe for the first time an intergenerational de novo SCA7 CAG large expansion.

Keywords: Spinocerebellar ataxia type 7; Multiplex; Triplet primed PCR

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