DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations

The gene for ataxia-telangiectasia (A-T:MIM:#208900), ATM, spans about 150~kb of genomic DNA and is composed of 62 coding exons. ATM mutations are found along the entire coding sequence of the gene, without evidence of mutational hot spots. Using DNA as the starting material, we used denaturing high...

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Main Authors:	Magliozzi, Monia, Piane, Maria, Torrente, Isabella, Sinibaldi, Lorenzo, Rizzo, Giovanni, Savio, Camilla, Lulli, Patrizia, De Luca, Alessandro, Dallapiccola, Bruno, Chessa, Luciana
Format:	Online
Language:	English
Published:	IOS Press 2006
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3862285/

id	pubmed-3862285
recordtype	oai_dc
spelling	pubmed-38622852013-12-25 DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations Magliozzi, Monia Piane, Maria Torrente, Isabella Sinibaldi, Lorenzo Rizzo, Giovanni Savio, Camilla Lulli, Patrizia De Luca, Alessandro Dallapiccola, Bruno Chessa, Luciana Regular Article The gene for ataxia-telangiectasia (A-T:MIM:#208900), ATM, spans about 150~kb of genomic DNA and is composed of 62 coding exons. ATM mutations are found along the entire coding sequence of the gene, without evidence of mutational hot spots. Using DNA as the starting material, we used denaturing high performance liquid chromatography (DHPLC) technique to search for ATM gene mutations. Initially, DHPLC was validated in a retrospective study of 16 positive control samples that included 19 known mutations; 100% of mutations were detected. Subsequently, DHPLC was used to screen for mutations a cohort of 22 patients with the classical form of A-T. A total of 27 different mutations were identified on 38 of the 44 alleles, corresponding to a 86% detection rate. Fourteen of the mutations were novel. In addition, 15 different variants and polymorphisms of unknown functional significance were found. The high incidence of new and individual A-T mutations in our cohort of patients demonstrates marked mutational heterogeneity of A-T in Italy and corroborate the efficiency of DHPLC as a method for the mutation screening of A-T patients. IOS Press 2006 2006-11-15 /pmc/articles/PMC3862285/ /pubmed/17124347 http://dx.doi.org/10.1155/2006/740493 Text en Copyright © 2006 Hindawi Publishing Corporation.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Magliozzi, Monia Piane, Maria Torrente, Isabella Sinibaldi, Lorenzo Rizzo, Giovanni Savio, Camilla Lulli, Patrizia De Luca, Alessandro Dallapiccola, Bruno Chessa, Luciana
spellingShingle	Magliozzi, Monia Piane, Maria Torrente, Isabella Sinibaldi, Lorenzo Rizzo, Giovanni Savio, Camilla Lulli, Patrizia De Luca, Alessandro Dallapiccola, Bruno Chessa, Luciana DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations
author_facet	Magliozzi, Monia Piane, Maria Torrente, Isabella Sinibaldi, Lorenzo Rizzo, Giovanni Savio, Camilla Lulli, Patrizia De Luca, Alessandro Dallapiccola, Bruno Chessa, Luciana
author_sort	Magliozzi, Monia
title	DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations
title_short	DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations
title_full	DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations
title_fullStr	DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations
title_full_unstemmed	DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations
title_sort	dhplc screening of atm gene in italian patients affected by ataxia-telangiectasia: fourteen novel atm mutations
description	The gene for ataxia-telangiectasia (A-T:MIM:#208900), ATM, spans about 150~kb of genomic DNA and is composed of 62 coding exons. ATM mutations are found along the entire coding sequence of the gene, without evidence of mutational hot spots. Using DNA as the starting material, we used denaturing high performance liquid chromatography (DHPLC) technique to search for ATM gene mutations. Initially, DHPLC was validated in a retrospective study of 16 positive control samples that included 19 known mutations; 100% of mutations were detected. Subsequently, DHPLC was used to screen for mutations a cohort of 22 patients with the classical form of A-T. A total of 27 different mutations were identified on 38 of the 44 alleles, corresponding to a 86% detection rate. Fourteen of the mutations were novel. In addition, 15 different variants and polymorphisms of unknown functional significance were found. The high incidence of new and individual A-T mutations in our cohort of patients demonstrates marked mutational heterogeneity of A-T in Italy and corroborate the efficiency of DHPLC as a method for the mutation screening of A-T patients.
publisher	IOS Press
publishDate	2006
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3862285/
_version_	1612038232721063936

DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations

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