POSTER PRESENTATION Open Access Molecular studies on ARX gene in syndromic and non-syndromic mental retardation Gayatri Kulkarni * , Suvidya Ranade From International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG) Ahmadabad, India. 23-25 January 2013 Background Mental retardation (MR) is frequently the result of genetic mutations. Syndromic mental retardation is intellectual deficits associated with other medical and behavioral signs and symptoms. Non-syndromic mental retardation refers to intellectual deficits that appear without other abnormalities. The newly identified ARX (Aristaless related homeobox) gene consists of five exons and encodes 562 amino acid proteins and is thought to regulate brain develop- ment. Mutations in the ARX gene are associated with a diverse spectrum of phenotypes ranging from severe developmental abnormalities of the brain to syndromic and nonsyndromic forms of X-linked mental retardation (XLMR) syndromes that can be associated with normal or abnormal brain morphology. Mutations in the human ARX gene are the major cause of developmental and neurological disorders. Material and methods The present study was focused on screening of exon 2 of ARX gene in Indian families with mental retardation in order to obtain the relative prevalence of ARX mutations. Method adapted in present study was amplification of target exon by using polymerase chain reaction, qualitative conformation of amplicons by agarose gel electrophoresis and their use for conformation sensitive gel electrophoresis to find heteroduplex formation which is followed by sequencing. Conclusion In present study we have found insertion mutation at genomic position 25031668, this change leads to loss of homeobox, OAR domains of ARX protein. The other mutation obtained was substitution of C to A/G is observed and does not affect protein functioning. Published: 21 January 2014 doi:10.1186/1755-8166-7-S1-P75 Cite this article as: Kulkarni and Ranade: Molecular studies on ARX gene in syndromic and non-syndromic mental retardation. Molecular Cytogenetics 2014 7(Suppl 1):P75. Submit your next manuscript to BioMed Central and take full advantage of: • Convenient online submission • Thorough peer review • No space constraints or color ﬁgure charges • Immediate publication on acceptance • Inclusion in PubMed, CAS, Scopus and Google Scholar • Research which is freely available for redistribution Submit your manuscript at www.biomedcentral.com/submit Department of Chemistry, University of Pune, Pune, Maharashtra, India Kulkarni and Ranade Molecular Cytogenetics 2014, 7(Suppl 1):P75 http://www.molecularcytogenetics.org/content/7/S1/P75 © 2014 Kulkarni and Ranade; licensee 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.

Molecular studies on ARX gene in syndromic and non-syndromic mental retardation

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Page 1: Molecular studies on ARX gene in syndromic and non-syndromic mental retardation

POSTER PRESENTATION Open Access

Molecular studies on ARX gene in syndromic andnon-syndromic mental retardationGayatri Kulkarni*, Suvidya Ranade

From International Conference on Human Genetics and 39th Annual Meeting of the Indian Society ofHuman Genetics (ISHG)Ahmadabad, India. 23-25 January 2013

BackgroundMental retardation (MR) is frequently the result of geneticmutations. Syndromic mental retardation is intellectualdeficits associated with other medical and behavioral signsand symptoms. Non-syndromic mental retardation refersto intellectual deficits that appear without other abnormal-ities. The newly identified ARX (Aristaless related homeo-box) gene consists of five exons and encodes 562 aminoacid proteins and is thought to regulate brain develop-ment. Mutations in the ARX gene are associated with adiverse spectrum of phenotypes ranging from severedevelopmental abnormalities of the brain to syndromicand nonsyndromic forms of X-linked mental retardation(XLMR) syndromes that can be associated with normal orabnormal brain morphology. Mutations in the humanARX gene are the major cause of developmental andneurological disorders.

Material and methodsThe present study was focused on screening of exon 2 ofARX gene in Indian families with mental retardation inorder to obtain the relative prevalence of ARX mutations.Method adapted in present study was amplification oftarget exon by using polymerase chain reaction, qualitativeconformation of amplicons by agarose gel electrophoresisand their use for conformation sensitive gel electrophor-esis to find heteroduplex formation which is followed bysequencing.

ConclusionIn present study we have found insertion mutation atgenomic position 25031668, this change leads to loss ofhomeobox, OAR domains of ARX protein. The other

mutation obtained was substitution of C to A/G isobserved and does not affect protein functioning.

Published: 21 January 2014

doi:10.1186/1755-8166-7-S1-P75Cite this article as: Kulkarni and Ranade: Molecular studies on ARX genein syndromic and non-syndromic mental retardation. MolecularCytogenetics 2014 7(Suppl 1):P75.

Submit your next manuscript to BioMed Centraland take full advantage of:

• Convenient online submission

• Thorough peer review

• No space constraints or color figure charges

• Immediate publication on acceptance

• Inclusion in PubMed, CAS, Scopus and Google Scholar

• Research which is freely available for redistribution

Submit your manuscript at www.biomedcentral.com/submit

Department of Chemistry, University of Pune, Pune, Maharashtra, India

Kulkarni and Ranade Molecular Cytogenetics 2014, 7(Suppl 1):P75http://www.molecularcytogenetics.org/content/7/S1/P75

© 2014 Kulkarni and Ranade; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the CreativeCommons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, andreproduction 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.

http://creativecommons.org/licenses/by/2.0

http://creativecommons.org/publicdomain/zero/1.0/