Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790

All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.

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: jmlaso12@gmail.com

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

international publisher, scitechnol, subscription journals, subscription, international, publisher, science

Track Your Manuscript

Awards Nomination

Media Partners

Associations

open access