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Recurrent HERV ‐ H ‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

We describe the molecular and clinical characterization of nine individuals with recurrent, 3.4‐Mb, de novo deletions of 3q13.2–q13.31 detected by chromosomal microarray analysis. All individuals have hypotonia and language and motor delays; they variably express mild to moderate cognitive delays (8... Full description

Journal Title: Human Mutation October 2013, Vol.34(10), pp.1415-1423
Main Author: Shuvarikov, Andrey
Other Authors: Campbell, Ian M. , Dittwald, Piotr , Neill, Nicholas J. , Bialer, Martin G. , Moore, Christine , Wheeler, Patricia G. , Wallace, Stephanie E. , Hannibal, Mark C. , Murray, Michael F. , Giovanni, Monica A. , Terespolsky, Deborah , Sodhi, Sandi , Cassina, Matteo , Viskochil, David , Moghaddam, Billur , Herman, Kristin , Brown, Chester W. , Beck, Christine R. , Gambin, Anna , Cheung, Sau Wai , Patel, Ankita , Lamb, Allen N. , Shaffer, Lisa G. , Ellison, Jay W. , Ravnan, J. Britt , Stankiewicz, Paweł , Rosenfeld, Jill A.
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ID: ISSN: 1059-7794 ; E-ISSN: 1098-1004 ; DOI: 10.1002/humu.22384
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title: Recurrent HERV ‐ H ‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
format: Article
creator:
  • Shuvarikov, Andrey
  • Campbell, Ian M.
  • Dittwald, Piotr
  • Neill, Nicholas J.
  • Bialer, Martin G.
  • Moore, Christine
  • Wheeler, Patricia G.
  • Wallace, Stephanie E.
  • Hannibal, Mark C.
  • Murray, Michael F.
  • Giovanni, Monica A.
  • Terespolsky, Deborah
  • Sodhi, Sandi
  • Cassina, Matteo
  • Viskochil, David
  • Moghaddam, Billur
  • Herman, Kristin
  • Brown, Chester W.
  • Beck, Christine R.
  • Gambin, Anna
  • Cheung, Sau Wai
  • Patel, Ankita
  • Lamb, Allen N.
  • Shaffer, Lisa G.
  • Ellison, Jay W.
  • Ravnan, J. Britt
  • Stankiewicz, Paweł
  • Rosenfeld, Jill A.
subjects:
  • 3q13
  • Microdeletion
  • Hypotonia
  • Nahr
  • Recurrent
  • Developmental Delay
  • Microarray
ispartof: Human Mutation, October 2013, Vol.34(10), pp.1415-1423
description: We describe the molecular and clinical characterization of nine individuals with recurrent, 3.4‐Mb, de novo deletions of 3q13.2–q13.31 detected by chromosomal microarray analysis. All individuals have hypotonia and language and motor delays; they variably express mild to moderate cognitive delays (8/9), abnormal behavior (7/9), and autism spectrum disorders (3/9). Common facial features include downslanting palpebral fissures with epicanthal folds, a slightly bulbous nose, and relative macrocephaly. Twenty‐eight genes map to the deleted region, including four strong candidate genes, , , , and , with important roles in neural and/or muscular development. Analysis of the breakpoint regions based on array data revealed directly oriented human endogenous retrovirus (‐) elements of ∼5 kb in size and of >95% DNA sequence identity flanking the deletion. Subsequent DNA sequencing revealed different deletion breakpoints and suggested nonallelic homologous recombination () between ‐ elements as a mechanism of deletion formation, analogous to ‐‐flanked and ‐mediated a deletions. We propose that similar elements may also mediate other recurrent deletion and duplication events on a genome‐wide scale. Observation of rare recurrent chromosomal events such as these deletions helps to further the understanding of mechanisms behind naturally occurring variation in the human genome and its contribution to genetic disease. A recurrent microdeletion of 3q13.2q13.31 results in a syndrome of hypotonia, language and motor delays, and variable dysmorphisms, cognitive delays, and behavior problems. The deletions likely arise via non‐allelic homologous recombination (NAHR) between flanking retroviral elements, which contain shorter segments of homology than observed with repetitive sequences leading to more canonical NAHR events.
language:
source:
identifier: ISSN: 1059-7794 ; E-ISSN: 1098-1004 ; DOI: 10.1002/humu.22384
fulltext: fulltext
issn:
  • 1059-7794
  • 10597794
  • 1098-1004
  • 10981004
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titleRecurrent HERV ‐ H ‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
creatorShuvarikov, Andrey ; Campbell, Ian M. ; Dittwald, Piotr ; Neill, Nicholas J. ; Bialer, Martin G. ; Moore, Christine ; Wheeler, Patricia G. ; Wallace, Stephanie E. ; Hannibal, Mark C. ; Murray, Michael F. ; Giovanni, Monica A. ; Terespolsky, Deborah ; Sodhi, Sandi ; Cassina, Matteo ; Viskochil, David ; Moghaddam, Billur ; Herman, Kristin ; Brown, Chester W. ; Beck, Christine R. ; Gambin, Anna ; Cheung, Sau Wai ; Patel, Ankita ; Lamb, Allen N. ; Shaffer, Lisa G. ; Ellison, Jay W. ; Ravnan, J. Britt ; Stankiewicz, Paweł ; Rosenfeld, Jill A.
ispartofHuman Mutation, October 2013, Vol.34(10), pp.1415-1423
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subject3q13 ; Microdeletion ; Hypotonia ; Nahr ; Recurrent ; Developmental Delay ; Microarray ; ‐
descriptionWe describe the molecular and clinical characterization of nine individuals with recurrent, 3.4‐Mb, de novo deletions of 3q13.2–q13.31 detected by chromosomal microarray analysis. All individuals have hypotonia and language and motor delays; they variably express mild to moderate cognitive delays (8/9), abnormal behavior (7/9), and autism spectrum disorders (3/9). Common facial features include downslanting palpebral fissures with epicanthal folds, a slightly bulbous nose, and relative macrocephaly. Twenty‐eight genes map to the deleted region, including four strong candidate genes, , , , and , with important roles in neural and/or muscular development. Analysis of the breakpoint regions based on array data revealed directly oriented human endogenous retrovirus (‐) elements of ∼5 kb in size and of >95% DNA sequence identity flanking the deletion. Subsequent DNA sequencing revealed different deletion breakpoints and suggested nonallelic homologous recombination () between ‐ elements as a mechanism of deletion formation, analogous to ‐‐flanked and ‐mediated a deletions. We propose that similar elements may also mediate other recurrent deletion and duplication events on a genome‐wide scale. Observation of rare recurrent chromosomal events such as these deletions helps to further the understanding of mechanisms behind naturally occurring variation in the human genome and its contribution to genetic disease. A recurrent microdeletion of 3q13.2q13.31 results in a syndrome of hypotonia, language and motor delays, and variable dysmorphisms, cognitive delays, and behavior problems. The deletions likely arise via non‐allelic homologous recombination (NAHR) between flanking retroviral elements, which contain shorter segments of homology than observed with repetitive sequences leading to more canonical NAHR events.
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titleRecurrent HERV ‐ H ‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
descriptionWe describe the molecular and clinical characterization of nine individuals with recurrent, 3.4‐Mb, de novo deletions of 3q13.2–q13.31 detected by chromosomal microarray analysis. All individuals have hypotonia and language and motor delays; they variably express mild to moderate cognitive delays (8/9), abnormal behavior (7/9), and autism spectrum disorders (3/9). Common facial features include downslanting palpebral fissures with epicanthal folds, a slightly bulbous nose, and relative macrocephaly. Twenty‐eight genes map to the deleted region, including four strong candidate genes, , , , and , with important roles in neural and/or muscular development. Analysis of the breakpoint regions based on array data revealed directly oriented human endogenous retrovirus (‐) elements of ∼5 kb in size and of >95% DNA sequence identity flanking the deletion. Subsequent DNA sequencing revealed different deletion breakpoints and suggested nonallelic homologous recombination () between ‐ elements as a mechanism of deletion formation, analogous to ‐‐flanked and ‐mediated a deletions. We propose that similar elements may also mediate other recurrent deletion and duplication events on a genome‐wide scale. Observation of rare recurrent chromosomal events such as these deletions helps to further the understanding of mechanisms behind naturally occurring variation in the human genome and its contribution to genetic disease. A recurrent microdeletion of 3q13.2q13.31 results in a syndrome of hypotonia, language and motor delays, and variable dysmorphisms, cognitive delays, and behavior problems. The deletions likely arise via non‐allelic homologous recombination (NAHR) between flanking retroviral elements, which contain shorter segments of homology than observed with repetitive sequences leading to more canonical NAHR events.
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titleRecurrent HERV ‐ H ‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
authorShuvarikov, Andrey ; Campbell, Ian M. ; Dittwald, Piotr ; Neill, Nicholas J. ; Bialer, Martin G. ; Moore, Christine ; Wheeler, Patricia G. ; Wallace, Stephanie E. ; Hannibal, Mark C. ; Murray, Michael F. ; Giovanni, Monica A. ; Terespolsky, Deborah ; Sodhi, Sandi ; Cassina, Matteo ; Viskochil, David ; Moghaddam, Billur ; Herman, Kristin ; Brown, Chester W. ; Beck, Christine R. ; Gambin, Anna ; Cheung, Sau Wai ; Patel, Ankita ; Lamb, Allen N. ; Shaffer, Lisa G. ; Ellison, Jay W. ; Ravnan, J. Britt ; Stankiewicz, Paweł ; Rosenfeld, Jill A.
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atitleRecurrent HERV ‐ H ‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
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abstractWe describe the molecular and clinical characterization of nine individuals with recurrent, 3.4‐Mb, de novo deletions of 3q13.2–q13.31 detected by chromosomal microarray analysis. All individuals have hypotonia and language and motor delays; they variably express mild to moderate cognitive delays (8/9), abnormal behavior (7/9), and autism spectrum disorders (3/9). Common facial features include downslanting palpebral fissures with epicanthal folds, a slightly bulbous nose, and relative macrocephaly. Twenty‐eight genes map to the deleted region, including four strong candidate genes, , , , and , with important roles in neural and/or muscular development. Analysis of the breakpoint regions based on array data revealed directly oriented human endogenous retrovirus (‐) elements of ∼5 kb in size and of >95% DNA sequence identity flanking the deletion. Subsequent DNA sequencing revealed different deletion breakpoints and suggested nonallelic homologous recombination () between ‐ elements as a mechanism of deletion formation, analogous to ‐‐flanked and ‐mediated a deletions. We propose that similar elements may also mediate other recurrent deletion and duplication events on a genome‐wide scale. Observation of rare recurrent chromosomal events such as these deletions helps to further the understanding of mechanisms behind naturally occurring variation in the human genome and its contribution to genetic disease. A recurrent microdeletion of 3q13.2q13.31 results in a syndrome of hypotonia, language and motor delays, and variable dysmorphisms, cognitive delays, and behavior problems. The deletions likely arise via non‐allelic homologous recombination (NAHR) between flanking retroviral elements, which contain shorter segments of homology than observed with repetitive sequences leading to more canonical NAHR events.
doi10.1002/humu.22384
pages1415-1423
date2013-10