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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Mutations in the MECP2 gene are associated with Rett syndrome, an X-linked mental retardation disorder in females. Mutations also cause variable neurodevelopmental phenotypes in rare affected males. Recent clinical testing for MECP2 gene rearrangements revealed that entire MECP2 gene duplication occ... Full description

Journal Title: Genetics in medicine 2006-12, Vol.8 (12), p.784-792
Main Author: del Gaudio, Daniela
Other Authors: Fang, Ping , Scaglia, Fernando , Ward, Patricia A , Craigen, William J , Glaze, Daniel G , Neul, Jeffrey L , Patel, Ankita , Lee, Jennifer A , Irons, Mira , Berry, Susan A , Pursley, Amber A , Grebe, Theresa A , Freedenberg, Debra , Martin, Rick A , Hsich, Gary E , Khera, Jena R , Friedman, Neil R , Zoghbi, Huda Y , Eng, Christine M , Lupski, James R , Beaudet, Arthur L , Cheung, Sau Wai , Roa, Benjamin B
Format: Electronic Article Electronic Article
Language: English
Subjects:
Publisher: United States
ID: ISSN: 1098-3600
Link: https://www.ncbi.nlm.nih.gov/pubmed/17172942
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title: Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
format: Article
creator:
  • del Gaudio, Daniela
  • Fang, Ping
  • Scaglia, Fernando
  • Ward, Patricia A
  • Craigen, William J
  • Glaze, Daniel G
  • Neul, Jeffrey L
  • Patel, Ankita
  • Lee, Jennifer A
  • Irons, Mira
  • Berry, Susan A
  • Pursley, Amber A
  • Grebe, Theresa A
  • Freedenberg, Debra
  • Martin, Rick A
  • Hsich, Gary E
  • Khera, Jena R
  • Friedman, Neil R
  • Zoghbi, Huda Y
  • Eng, Christine M
  • Lupski, James R
  • Beaudet, Arthur L
  • Cheung, Sau Wai
  • Roa, Benjamin B
subjects:
  • Adolescent
  • Child
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosomes, Human, X
  • Developmental Disabilities - genetics
  • Gene Dosage
  • Gene Duplication
  • Genetic Testing
  • Humans
  • Infant
  • Male
  • Methyl-CpG-Binding Protein 2 - genetics
ispartof: Genetics in medicine, 2006-12, Vol.8 (12), p.784-792
description: Mutations in the MECP2 gene are associated with Rett syndrome, an X-linked mental retardation disorder in females. Mutations also cause variable neurodevelopmental phenotypes in rare affected males. Recent clinical testing for MECP2 gene rearrangements revealed that entire MECP2 gene duplication occurs in some males manifesting a progressive neurodevelopmental syndrome. Clinical testing through quantitative DNA methods and chromosomal microarray analysis in our laboratories identified seven male patients with increased MECP2 gene copy number. Duplication of the entire MECP2 gene was found in six patients, and MECP2 triplication was found in one patient with the most severe phenotype. The Xq28 duplications observed in these males are unique and vary in size from approximately 200 kb to 2.2 Mb. Three of the mothers who were tested were asymptomatic duplication carriers with skewed X-inactivation. In silico analysis of the Xq28 flanking region showed numerous low-copy repeats with potential roles in recombination. These collective data suggest that increased MECP2 gene copy number is mainly responsible for the neurodevelopmental phenotypes in these males. These findings underscore the allelic and phenotypic heterogeneity associated with the MECP2 gene and highlight the value of molecular analysis for patient diagnosis, family members at risk, and genetic counseling.
language: eng
source:
identifier: ISSN: 1098-3600
fulltext: no_fulltext
issn:
  • 1098-3600
  • 1530-0366
url: Link


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titleIncreased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
creatordel Gaudio, Daniela ; Fang, Ping ; Scaglia, Fernando ; Ward, Patricia A ; Craigen, William J ; Glaze, Daniel G ; Neul, Jeffrey L ; Patel, Ankita ; Lee, Jennifer A ; Irons, Mira ; Berry, Susan A ; Pursley, Amber A ; Grebe, Theresa A ; Freedenberg, Debra ; Martin, Rick A ; Hsich, Gary E ; Khera, Jena R ; Friedman, Neil R ; Zoghbi, Huda Y ; Eng, Christine M ; Lupski, James R ; Beaudet, Arthur L ; Cheung, Sau Wai ; Roa, Benjamin B
creatorcontribdel Gaudio, Daniela ; Fang, Ping ; Scaglia, Fernando ; Ward, Patricia A ; Craigen, William J ; Glaze, Daniel G ; Neul, Jeffrey L ; Patel, Ankita ; Lee, Jennifer A ; Irons, Mira ; Berry, Susan A ; Pursley, Amber A ; Grebe, Theresa A ; Freedenberg, Debra ; Martin, Rick A ; Hsich, Gary E ; Khera, Jena R ; Friedman, Neil R ; Zoghbi, Huda Y ; Eng, Christine M ; Lupski, James R ; Beaudet, Arthur L ; Cheung, Sau Wai ; Roa, Benjamin B
descriptionMutations in the MECP2 gene are associated with Rett syndrome, an X-linked mental retardation disorder in females. Mutations also cause variable neurodevelopmental phenotypes in rare affected males. Recent clinical testing for MECP2 gene rearrangements revealed that entire MECP2 gene duplication occurs in some males manifesting a progressive neurodevelopmental syndrome. Clinical testing through quantitative DNA methods and chromosomal microarray analysis in our laboratories identified seven male patients with increased MECP2 gene copy number. Duplication of the entire MECP2 gene was found in six patients, and MECP2 triplication was found in one patient with the most severe phenotype. The Xq28 duplications observed in these males are unique and vary in size from approximately 200 kb to 2.2 Mb. Three of the mothers who were tested were asymptomatic duplication carriers with skewed X-inactivation. In silico analysis of the Xq28 flanking region showed numerous low-copy repeats with potential roles in recombination. These collective data suggest that increased MECP2 gene copy number is mainly responsible for the neurodevelopmental phenotypes in these males. These findings underscore the allelic and phenotypic heterogeneity associated with the MECP2 gene and highlight the value of molecular analysis for patient diagnosis, family members at risk, and genetic counseling.
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subjectAdolescent ; Child ; Child, Preschool ; Chromosome Aberrations ; Chromosomes, Human, X ; Developmental Disabilities - genetics ; Gene Dosage ; Gene Duplication ; Genetic Testing ; Humans ; Infant ; Male ; Methyl-CpG-Binding Protein 2 - genetics
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descriptionMutations in the MECP2 gene are associated with Rett syndrome, an X-linked mental retardation disorder in females. Mutations also cause variable neurodevelopmental phenotypes in rare affected males. Recent clinical testing for MECP2 gene rearrangements revealed that entire MECP2 gene duplication occurs in some males manifesting a progressive neurodevelopmental syndrome. Clinical testing through quantitative DNA methods and chromosomal microarray analysis in our laboratories identified seven male patients with increased MECP2 gene copy number. Duplication of the entire MECP2 gene was found in six patients, and MECP2 triplication was found in one patient with the most severe phenotype. The Xq28 duplications observed in these males are unique and vary in size from approximately 200 kb to 2.2 Mb. Three of the mothers who were tested were asymptomatic duplication carriers with skewed X-inactivation. In silico analysis of the Xq28 flanking region showed numerous low-copy repeats with potential roles in recombination. These collective data suggest that increased MECP2 gene copy number is mainly responsible for the neurodevelopmental phenotypes in these males. These findings underscore the allelic and phenotypic heterogeneity associated with the MECP2 gene and highlight the value of molecular analysis for patient diagnosis, family members at risk, and genetic counseling.
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titleIncreased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
authordel Gaudio, Daniela ; Fang, Ping ; Scaglia, Fernando ; Ward, Patricia A ; Craigen, William J ; Glaze, Daniel G ; Neul, Jeffrey L ; Patel, Ankita ; Lee, Jennifer A ; Irons, Mira ; Berry, Susan A ; Pursley, Amber A ; Grebe, Theresa A ; Freedenberg, Debra ; Martin, Rick A ; Hsich, Gary E ; Khera, Jena R ; Friedman, Neil R ; Zoghbi, Huda Y ; Eng, Christine M ; Lupski, James R ; Beaudet, Arthur L ; Cheung, Sau Wai ; Roa, Benjamin B
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8Genetic Testing
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abstractMutations in the MECP2 gene are associated with Rett syndrome, an X-linked mental retardation disorder in females. Mutations also cause variable neurodevelopmental phenotypes in rare affected males. Recent clinical testing for MECP2 gene rearrangements revealed that entire MECP2 gene duplication occurs in some males manifesting a progressive neurodevelopmental syndrome. Clinical testing through quantitative DNA methods and chromosomal microarray analysis in our laboratories identified seven male patients with increased MECP2 gene copy number. Duplication of the entire MECP2 gene was found in six patients, and MECP2 triplication was found in one patient with the most severe phenotype. The Xq28 duplications observed in these males are unique and vary in size from approximately 200 kb to 2.2 Mb. Three of the mothers who were tested were asymptomatic duplication carriers with skewed X-inactivation. In silico analysis of the Xq28 flanking region showed numerous low-copy repeats with potential roles in recombination. These collective data suggest that increased MECP2 gene copy number is mainly responsible for the neurodevelopmental phenotypes in these males. These findings underscore the allelic and phenotypic heterogeneity associated with the MECP2 gene and highlight the value of molecular analysis for patient diagnosis, family members at risk, and genetic counseling.
copUnited States
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