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
*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
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
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.