1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency
Identifieur interne : 002540 ( Main/Exploration ); précédent : 002539; suivant : 0025411p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency
Auteurs : Natália Duarte Linhares [Brésil] ; Maíra Cristina Menezes Freire [Brésil] ; Raony Guimarães Corrêa Do Carmo Lisboa Cardenas [Brésil] ; Heloisa Barbosa Pena [Brésil] ; Katherine Lachlan [Royaume-Uni] ; Bruno Dallapiccola [Italie] ; Carlos Bacino [États-Unis] ; Bruno Delobel [France] ; Paul James [Australie] ; Ann-Charlotte Thuresson [Suède] ; Göran Annerén [Suède] ; Sérgio D. J. Pena [Brésil]Source :
- Genetics and Molecular Biology [ 1415-4757 ] ; 2016.
Abstract
Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and
be a cause of the phenotypic variability observed in microdeletion syndromes. We
performed complete exome sequencing (WES) analysis to examine this possibility in a
patient with 1p13.2 microdeletion. Since the patient displayed clinical features
suggestive of Noonan Syndrome (NS), we also used WES to rule out the presence of
pathogenic variants in any of the genes associated with the different types of NS. We
concluded that the clinical findings could be attributed solely to the 1p13.2
haploinsufficiency. Retrospective analysis of other nine reported patients with
1p13.2 microdeletions showed that six of them also presented some characteristics of
NS. In all these cases, the deleted segment included the
Url:
DOI: 10.1590/1678-4685-GMB-2016-0049
PubMed: 27561113
PubMed Central: 5004838
Affiliations:
- Australie, Brésil, France, Italie, Royaume-Uni, Suède, États-Unis
- East Middle Sweden, Hauts-de-France, Latium, Minas Gerais, Nord-Pas-de-Calais, Svealand, Texas
- Belo Horizonte, Lille, Rome, Uppsala
- Université d'Uppsala, Université fédérale du Minas Gerais
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MG</wicri:regionArea><placeName><region type="state">Minas Gerais</region><settlement type="city">Belo Horizonte</settlement></placeName><orgName type="university">Université fédérale du Minas Gerais</orgName></affiliation></author><author><name sortKey="Freire, Maira Cristina Menezes" sort="Freire, Maira Cristina Menezes" uniqKey="Freire M" first="Maíra Cristina Menezes" last="Freire">Maíra Cristina Menezes Freire</name><affiliation wicri:level="4"><nlm:aff id="aff2">Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG</wicri:regionArea><placeName><region type="state">Minas Gerais</region><settlement type="city">Belo Horizonte</settlement></placeName><orgName type="university">Université fédérale du Minas Gerais</orgName></affiliation></author><author><name sortKey="Cardenas, Raony Guimaraes Correa Do Carmo Lisboa" sort="Cardenas, Raony Guimaraes Correa Do Carmo Lisboa" uniqKey="Cardenas R" first="Raony Guimarães Corrêa Do Carmo Lisboa" last="Cardenas">Raony Guimarães Corrêa Do Carmo Lisboa Cardenas</name><affiliation wicri:level="4"><nlm:aff id="aff1">Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG</wicri:regionArea><placeName><region type="state">Minas Gerais</region><settlement type="city">Belo Horizonte</settlement></placeName><orgName type="university">Université fédérale du Minas Gerais</orgName></affiliation></author><author><name sortKey="Pena, Heloisa Barbosa" sort="Pena, Heloisa Barbosa" uniqKey="Pena H" first="Heloisa Barbosa" last="Pena">Heloisa Barbosa Pena</name><affiliation wicri:level="2"><nlm:aff id="aff3">Laboratório Gene – Núcleo de Genética Médica, Belo Horizonte, MG, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Laboratório Gene – Núcleo de Genética Médica, Belo Horizonte, MG</wicri:regionArea><placeName><region type="state">Minas Gerais</region></placeName></affiliation></author><author><name sortKey="Lachlan, Katherine" sort="Lachlan, Katherine" uniqKey="Lachlan K" first="Katherine" last="Lachlan">Katherine Lachlan</name><affiliation wicri:level="1"><nlm:aff id="aff4">Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton</wicri:regionArea><wicri:noRegion>Southampton</wicri:noRegion></affiliation></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><affiliation wicri:level="3"><nlm:aff id="aff5">Bambino Gesù Children Hospital, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Bambino Gesù Children Hospital, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Bacino, Carlos" sort="Bacino, Carlos" uniqKey="Bacino C" first="Carlos" last="Bacino">Carlos Bacino</name><affiliation wicri:level="2"><nlm:aff id="aff6">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Delobel, Bruno" sort="Delobel, Bruno" uniqKey="Delobel B" first="Bruno" last="Delobel">Bruno Delobel</name><affiliation wicri:level="3"><nlm:aff id="aff7">Centre de Génétique Chromosomique, GH de l'Institut Catholique de Lille - Hopital Saint Vincent de Paul, Lille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique Chromosomique, GH de l'Institut Catholique de Lille - Hopital Saint Vincent de Paul, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="James, Paul" sort="James, Paul" uniqKey="James P" first="Paul" last="James">Paul James</name><affiliation wicri:level="1"><nlm:aff id="aff8">Victorian Clinical Genetics Service, Melbourne, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Victorian Clinical Genetics Service, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Thuresson, Ann Charlotte" sort="Thuresson, Ann Charlotte" uniqKey="Thuresson A" first="Ann-Charlotte" last="Thuresson">Ann-Charlotte Thuresson</name><affiliation wicri:level="4"><nlm:aff id="aff9">Department of Immunology, Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, Uppsala, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Immunology, Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, Uppsala</wicri:regionArea><orgName type="university">Université d'Uppsala</orgName><placeName><settlement type="city">Uppsala</settlement><region nuts="1">Svealand</region><region nuts="1">East Middle Sweden</region></placeName></affiliation></author><author><name sortKey="Anneren, Goran" sort="Anneren, Goran" uniqKey="Anneren G" first="Göran" last="Annerén">Göran Annerén</name><affiliation wicri:level="4"><nlm:aff id="aff9">Department of Immunology, Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, Uppsala, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Immunology, Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, Uppsala</wicri:regionArea><orgName type="university">Université d'Uppsala</orgName><placeName><settlement type="city">Uppsala</settlement><region nuts="1">Svealand</region><region nuts="1">East Middle Sweden</region></placeName></affiliation></author><author><name sortKey="Pena, Sergio D J" sort="Pena, Sergio D J" uniqKey="Pena S" first="Sérgio D. J." last="Pena">Sérgio D. J. Pena</name><affiliation wicri:level="4"><nlm:aff id="aff1">Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG</wicri:regionArea><placeName><region type="state">Minas Gerais</region><settlement type="city">Belo Horizonte</settlement></placeName><orgName type="university">Université fédérale du Minas Gerais</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="aff2">Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG</wicri:regionArea><placeName><region type="state">Minas Gerais</region><settlement type="city">Belo Horizonte</settlement></placeName><orgName type="university">Université fédérale du Minas Gerais</orgName></affiliation><affiliation wicri:level="2"><nlm:aff id="aff3">Laboratório Gene – Núcleo de Genética Médica, Belo Horizonte, MG, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Laboratório Gene – Núcleo de Genética Médica, Belo Horizonte, MG</wicri:regionArea><placeName><region type="state">Minas Gerais</region></placeName></affiliation></author></analytic><series><title level="j">Genetics and Molecular Biology</title><idno type="ISSN">1415-4757</idno><idno type="eISSN">1678-4685</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><title>Abstract</title><p>Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and
be a cause of the phenotypic variability observed in microdeletion syndromes. We
performed complete exome sequencing (WES) analysis to examine this possibility in a
patient with 1p13.2 microdeletion. Since the patient displayed clinical features
suggestive of Noonan Syndrome (NS), we also used WES to rule out the presence of
pathogenic variants in any of the genes associated with the different types of NS. We
concluded that the clinical findings could be attributed solely to the 1p13.2
haploinsufficiency. Retrospective analysis of other nine reported patients with
1p13.2 microdeletions showed that six of them also presented some characteristics of
NS. In all these cases, the deleted segment included the <italic>NRAS</italic> gene.
Gain-of-function mutations of <italic>NRAS</italic> gene are causally related to NS
type 6. Thus, it is conceivable that <italic>NRAS</italic> haploinsufficiency and
gain-of-function mutations may have similar clinical consequences. The same
phenomenon has been described for two other genes belonging to the Ras/MAPK pathway:
<italic>MAP2K2</italic> and <italic>SHOC2</italic>. In conclusion, we here report
genotype-phenotype correlations in patients with chromosome 1p13.2 microdeletions and
we propose that <italic>NRAS</italic> may be a critical gene for the NS
characteristics in the patients.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Albers, Ca" uniqKey="Albers C">CA Albers</name></author><author><name sortKey="Paul, Ds" uniqKey="Paul D">DS Paul</name></author><author><name sortKey="Schulze, H" uniqKey="Schulze H">H Schulze</name></author><author><name sortKey="Freson, K" uniqKey="Freson K">K Freson</name></author><author><name sortKey="Stephens, Jc" uniqKey="Stephens J">JC Stephens</name></author><author><name sortKey="Smethurst, Pa" uniqKey="Smethurst P">PA Smethurst</name></author><author><name sortKey="Jolley, Jd" uniqKey="Jolley J">JD Jolley</name></author><author><name sortKey="Cvejic, A" uniqKey="Cvejic A">A Cvejic</name></author><author><name sortKey="Kostadima, M" uniqKey="Kostadima M">M Kostadima</name></author><author><name sortKey="Bertone, P" uniqKey="Bertone P">P Bertone</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bisgaard, Am" 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Wennerberg</name></author><author><name sortKey="Rossman, Kl" uniqKey="Rossman K">KL Rossman</name></author><author><name sortKey="Der, Cj" uniqKey="Der C">CJ Der</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Yamagishi, H" uniqKey="Yamagishi H">H Yamagishi</name></author><author><name sortKey="Ishii, C" uniqKey="Ishii C">C Ishii</name></author><author><name sortKey="Maeda, J" uniqKey="Maeda J">J Maeda</name></author><author><name sortKey="Kojima, Y" uniqKey="Kojima Y">Y Kojima</name></author><author><name sortKey="Matsuoka, R" uniqKey="Matsuoka R">R Matsuoka</name></author><author><name sortKey="Kimura, M" uniqKey="Kimura M">M Kimura</name></author><author><name sortKey="Takao, A" uniqKey="Takao A">A Takao</name></author><author><name sortKey="Momma, K" uniqKey="Momma K">K Momma</name></author><author><name sortKey="Matsuo, N" uniqKey="Matsuo N">N Matsuo</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Australie</li><li>Brésil</li><li>France</li><li>Italie</li><li>Royaume-Uni</li><li>Suède</li><li>États-Unis</li></country><region><li>East Middle Sweden</li><li>Hauts-de-France</li><li>Latium</li><li>Minas Gerais</li><li>Nord-Pas-de-Calais</li><li>Svealand</li><li>Texas</li></region><settlement><li>Belo Horizonte</li><li>Lille</li><li>Rome</li><li>Uppsala</li></settlement><orgName><li>Université d'Uppsala</li><li>Université fédérale du Minas Gerais</li></orgName></list><tree><country name="Brésil"><region name="Minas Gerais"><name sortKey="Linhares, Natalia Duarte" sort="Linhares, Natalia Duarte" uniqKey="Linhares N" first="Natália Duarte" last="Linhares">Natália Duarte Linhares</name></region><name sortKey="Cardenas, Raony Guimaraes Correa Do Carmo Lisboa" sort="Cardenas, Raony Guimaraes Correa Do Carmo Lisboa" uniqKey="Cardenas R" first="Raony Guimarães Corrêa Do Carmo Lisboa" last="Cardenas">Raony Guimarães Corrêa Do Carmo Lisboa Cardenas</name><name sortKey="Freire, Maira Cristina Menezes" sort="Freire, Maira Cristina Menezes" uniqKey="Freire M" first="Maíra Cristina Menezes" last="Freire">Maíra Cristina Menezes Freire</name><name sortKey="Pena, Heloisa Barbosa" sort="Pena, Heloisa Barbosa" uniqKey="Pena H" first="Heloisa Barbosa" last="Pena">Heloisa Barbosa Pena</name><name sortKey="Pena, Sergio D J" sort="Pena, Sergio D J" uniqKey="Pena S" first="Sérgio D. J." last="Pena">Sérgio D. J. Pena</name><name sortKey="Pena, Sergio D J" sort="Pena, Sergio D J" uniqKey="Pena S" first="Sérgio D. J." last="Pena">Sérgio D. J. Pena</name><name sortKey="Pena, Sergio D J" sort="Pena, Sergio D J" uniqKey="Pena S" first="Sérgio D. J." last="Pena">Sérgio D. J. Pena</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Lachlan, Katherine" sort="Lachlan, Katherine" uniqKey="Lachlan K" first="Katherine" last="Lachlan">Katherine Lachlan</name></noRegion></country><country name="Italie"><region name="Latium"><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name></region></country><country name="États-Unis"><region name="Texas"><name sortKey="Bacino, Carlos" sort="Bacino, Carlos" uniqKey="Bacino C" first="Carlos" last="Bacino">Carlos Bacino</name></region></country><country name="France"><region name="Hauts-de-France"><name sortKey="Delobel, Bruno" sort="Delobel, Bruno" uniqKey="Delobel B" first="Bruno" last="Delobel">Bruno Delobel</name></region></country><country name="Australie"><noRegion><name sortKey="James, Paul" sort="James, Paul" uniqKey="James P" first="Paul" last="James">Paul James</name></noRegion></country><country name="Suède"><region name="Svealand"><name sortKey="Thuresson, Ann Charlotte" sort="Thuresson, Ann Charlotte" uniqKey="Thuresson A" first="Ann-Charlotte" last="Thuresson">Ann-Charlotte Thuresson</name></region><name sortKey="Anneren, Goran" sort="Anneren, Goran" uniqKey="Anneren G" first="Göran" last="Annerén">Göran Annerén</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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