DHPLC analysis of the MECP2 gene in Italian Rett patients.

DHPLC analysis of the MECP2 gene in Italian Rett patients. Research Abstract Details 

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DHPLC analysis of the MECP2 gene in Italian Rett patients. Abstract Text:

Rett Syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which almost exclusively affects girls, with an estimated prevalence of one in 10,000-15,000 female births. Mutations in the methyl CpG binding protein 2 gene (MECP2) have been identified in roughly 75% of classical Rett girls. The vast majority of Rett cases (99%) are sporadic in origin, and are due to de novo mutations. We collected DNA samples from 50 Italian classical Rett girls, and screened the MECP2 coding region for mutations by denaturing high-performance liquid chromatography (DHPLC) and subsequent direct sequencing. DHPLC is a recently developed method for mutation screening which identifies heteroduplexes formed in DNA samples containing mismatches between wild type and mutant DNA strands, combining high sensitivity, reduced cost per run, and high throughput. In our series, 19 different de novo MECP2 mutations, eight of which were previously unreported, were found in 35 out of 50 Rett girls (70%). Seven recurrent mutations were characterized in a total of 22 unrelated cases. Initial DHPLC screening allowed the identification of 17 out of 19 different mutations (90%); after optimal conditions were established, this figure increased to 100%, with all recurrent MECP2 mutations generating a characteristic chromatographic profile. Detailed clinical data were available for 27 out of 35 mutation carrying Rett girls. Milder disease was detectable in patients carrying nonsense mutation as compared to patients carrying missense mutations, although this difference was not statistically significant (P = 0.077).

DHPLC analysis of the MECP2 gene in Italian Rett patients. Publishing Authors By Initials

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DHPLC analysis of the MECP2 gene in Italian Rett patients. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Human mutation

VOLUME: 18

Page Numbers: 132-40

Journal Abbreviation: Hum. Mutat.

ISSN: 1098-1004

DAY: 9

MONTH: Aug

YEAR: 2001

DHPLC analysis of the MECP2 gene in Italian Rett patients. Information

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LANGUAGE: eng

NlmUniqueID: 9215429

DHPLC analysis of the MECP2 gene in Italian Rett patients. Keywords Mesh Terms:

KEYWORDS: Sex Ratio

MESH TERMS: physiopathology

Chemical & Substance for Abstract: DHPLC analysis of the MECP2 gene in Italian Rett patients. Information

Substance Name: Repressor Proteins

Registry Number: 0

Grant and Affiliation Information for DHPLC analysis of the MECP2 gene in Italian Rett patients.

AFFILIATION: Department of Neurological and Psychiatric Sciences, Second Neurological Clinic, Padua University, Padua, Italy. p.nicolao@libero.it

Country: United States

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MEDLINETA: Hum Mutat

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ACCESSION NUMBER: AF030876

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