1. bookVolume 1 (2017): Issue s2 (December 2017)
    MAGI group activity - Research, diagnosis and treatment of genetic and rare diseases
Journal Details
License
Format
Journal
First Published
30 Jan 2017
Publication timeframe
4 times per year
Languages
English
access type Open Access

MAGI Balkans, a laboratory for the diagnosis of rare genetic diseases

Journal Details
License
Format
Journal
First Published
30 Jan 2017
Publication timeframe
4 times per year
Languages
English

Molecular diagnosis relieves patients of uncertainty, aids informed decisions about health and reproductive choices, and helps them join clinical trials or access available therapy. Genetic testing by next generation sequencing (NGS) is the suggested choice for a wide variety of disorders with heterogeneous phenotypes, alleles and loci. The development of a NGS service at MAGI Balkans, through the support of a partner, increases the availability of forefront genetic testing in Albania with great advantages for patients and their families. Here we report the NGS tests performed in collaboration with MAGI Euregio, Italy, for the diagnosis of rare genetic disease in seven probands and their families. The diseases/manifestations included ichthyosis, familial adenomatous polyposis, diabetes, syndromic craniosynostosis, fronto-temporal dementia, fragile X syndrome and ataxia. We obtained an overall detection rate of 57%. For 4/7 probands we identified a pathogenic or likely pathogenic variant, while for the others, the results did not completely explain the phenotype. All variants were confirmed by Sanger sequencing. Segregation of the variant with the affected phenotype was also evaluated.

Keywords

1. Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat. Rev. Genet. [Internet]. 2013 [cited 2017 Oct 31];14:681-91. Available from: http://www.ncbi.nlm.nih.gov/pubmed/23999272.Search in Google Scholar

2. Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, et al. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am. J. Hum. Genet. [Internet]. 2017 [cited 2017 Oct 31];100:695-705. Available from: http://www.ncbi.nlm.nih.gov/pubmed/28475856.Search in Google Scholar

3. Evangelista T, Hanna M, Lochmüller H. Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness. Lochmüller H, editor. J. Neuromuscul. Dis. [Internet]. 2015 [cited 2017 Oct 30];2:S21-9. Available from: http://www.ncbi.nlm.nih.gov/pubmed/26870666.Search in Google Scholar

4. Sun W, Zheng W, Simeonov A. Drug discovery and development for rare genetic disorders. Am. J. Med. Genet. Part A [Internet]. 2017 [cited 2017 Oct 31];173:2307-22. Available from: http://www.ncbi.nlm.nih.gov/pubmed/28731526.Search in Google Scholar

5. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. [Internet]. IOP Publishing; 2015;17:405-23. Available from: http://dx.doi.org/10.1038/gim.2015.30.10.1038/gim.2015.30Open DOISearch in Google Scholar

6. Mattassi R, Manara E, Colombo PG, Manara S, Porcella A, Bruno G, et al. Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management. J. Vasc. Surg. [Internet]. 2017 [cited 2017 Jul 31]; Available from: http://www.ncbi.nlm.nih.gov/pubmed/28655553.Search in Google Scholar

Recommended articles from Trend MD

Plan your remote conference with Sciendo