Volume 7 Supplement 1

Proceedings of the International Conference on Human Genetics and 39th Annual Meeting of Indian Society of Human Genetics

Open Access

Molecular diagnosis of genodermatoses in india

Molecular Cytogenetics20147(Suppl 1):I18

DOI: 10.1186/1755-8166-7-S1-I18

Published: 21 January 2014

Genodermatoses refer to inherited diseases of skin structure and function. Several genodermatoses present with multisystem involvement lead to increased morbidity and mortality. Genetic Research Centre focused on identifying molecular basis of such dreadful skin diseases with recessive inheritance. This would help us identify common mutations, founder effects etc that would reduce the cost of screening patients and their carrier parents. During the years 2011-13, 100 patients were referred to the centre with genodermatoses. The commonest group was ichthyosis followed by epidermolysis bullosa, ectodermal dysplasia, albinism, cutis laxa, progeroid conditions, precancerous conditions xeroderma pigmentosum, Rothmund Thomson syndrome, dyskeratosis congenita. Genetic heterogeneity is very common and molecular diagnosis requires an extensive effort. Recurrent mutations in unrelated families were seen in families with xeroderma, Griscelli. Prenatal diagnosis could be provided for ichthyosis, infantile hyalinosis and progeria. This is the largest cohort of mutation proven patients with genodermatoses from India.

Authors’ Affiliations

(1)
ICMR-Genetic Research Centre, National Institute of Research in Reproductive Health [NIRRH]

Copyright

© Tamhankar; licensee BioMed Central Ltd. 2014

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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