De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

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Concepcion Gil-Rodriguez, MariaUniversity of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain (author)

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

Article/chapterEnglish2015

Publisher, publication year, extent ...

2015-03-17
Wiley: 12 months,2015
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LIBRIS-ID:oai:DiVA.org:liu-117795
https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-117795URI
https://doi.org/10.1002/humu.22761DOI
http://kipublications.ki.se/Default.aspx?queryparsed=id:131076565URI

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Language:English
Summary in:English

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SwePubSwePub

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

Funding Agencies|Spanish Ministry of Health - Fondo de Investigacion Sanitaria (FIS) [PI12/01318]; Diputacion General de Aragon (Grupo Consolidado) [B20]; European Social Fund ("Construyendo Europa desde Aragon"); Spanish Ministerio de Economia y Competitividad [IPT2011-0964-900000, SAF2011-13156-E]; University of Zaragoza [PIF-UZ_2009-BIO-02]; Fundacio La Marato de TV3 [1013EXPFMTV3]; University of Lubeck (Schwerpunktprogramm, Medizinische Genetik: Von seltenen Varianten zur Krankheitsentstehung); German Federal Ministry of Education and Research; Medical Research Council (UK); National Institutes of Health Grants (NICHD) [K08HD055488, P01 HD052860]; USA CdLS Foundation; Doris Duke Charitable Foundation [2012059]; Fundacion Severo Ochoa; European Social Fund
Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of 16 patients with CdLS-like features caused by mutations in SMC3. Modeling of the mutation effects on protein structure suggests a dominant-negative effect on the multimeric cohesin complex. When compared with typical CdLS, many SMC3-associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for approximate to 1%-2% of CdLS-like phenotypes.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine hsv//eng
Cornelia de Lange syndrome; CdLS; SMC3; cohesin complex; CdLS-overlapping phenotypes; CdLS-like

Added entries (persons, corporate bodies, meetings, titles ...)

Deardorff, Matthew A.Childrens Hospital Philadelphia, PA 19104 USA; University of Penn, PA 19104 USA (author)
Ansari, MoradUniversity of Edinburgh, Scotland (author)
Tan, Christopher A.University of Chicago, IL 60637 USA (author)
Parenti, IlariaMedical University of Lubeck, Germany; University of Milan, Italy (author)
Baquero-Montoya, CarolinaUniversity of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain; Hospital Pablo Tobon Uribe, Colombia (author)
Ousager, Lilian B.Odense University Hospital, Denmark (author)
Puisac, BeatrizUniversity of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain (author)
Hernandez-Marcos, MariaUniversity of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain (author)
Esperanza Teresa-Rodrigo, MariaUniversity of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain (author)
Marcos-Alcalde, InigoCentre Biol Molecular Severo Ochoa CSIC UAM, Spain (author)
Wesselink, Jan-JaapBiomol Informat SL Campus UAM, Spain (author)
Lusa-Bernal, SilviaBiomol Informat SL Campus UAM, Spain (author)
Bijlsma, Emilia K.Leiden University, Netherlands (author)
Braunholz, DianaMedical University of Lubeck, Germany (author)
Bueno-Martinez, InesUniversity of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain; Hospital Clin University of Lozano Blesa, Spain (author)
Clark, DinahChildrens Hospital Philadelphia, PA 19104 USA (author)
Cooper, Nicola S.Birmingham Womens Hospital, England (author)
Curry, Cynthia J.University of Calif San Francisco, CA USA (author)
Fisher, RichardJames Cook University, England (author)
Fryer, AlanLiverpool Womens Hospital, England; Alder Hey Childrens Hospital, England (author)
Ganesh, JayaChildrens Hospital Philadelphia, PA 19104 USA; University of Penn, PA 19104 USA (author)
Gervasini, CristinaUniversity of Milan, Italy (author)
Gillessen-Kaesbach, GabrieleMedical University of Lubeck, Germany (author)
Guo, YiranChildrens Hospital Philadelphia, PA 19104 USA (author)
Hakonarson, HakonUniversity of Penn, PA 19104 USA; Childrens Hospital Philadelphia, PA 19104 USA (author)
Hopkin, Robert J.Cincinnati Childrens Hospital Medical Centre, OH 45229 USA (author)
Kaur, ManinderChildrens Hospital Philadelphia, PA 19104 USA (author)
Keating, Brendan J.University of Penn, PA 19104 USA; Childrens Hospital Philadelphia, PA 19104 USA (author)
Kibaek, MariaHC Andersen Childrens Hospital, Denmark (author)
Kinning, EstherSo Gen Hospital, Scotland (author)
Kleefstra, TjitskeRadboud University of Nijmegen, Netherlands (author)
Kline, Antonie D.Greater Baltimore Medical Centre, MD USA (author)
Kuchinskaya, EkaterinaLinköpings universitet,Avdelningen för cellbiologi,Hälsouniversitetet(Swepub:liu)ekaku57 (author)
Larizza, LidiaKarolinska Institutet (author)
Li, Yun R.Childrens Hospital Philadelphia, PA 19104 USA; University of Penn, PA 19104 USA (author)
Liu, XuanzhuBGI Shenzhen, Peoples R China (author)
Mariani, MilenaUniversity of Milano Bicocca, Italy (author)
Picker, Jonathan D.Boston Childrens Hospital, MA USA; Boston Childrens Hospital, MA USA (author)
Pie, AngelesUniversity of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain (author)
Pozojevic, JelenaMedical University of Lubeck, Germany (author)
Queralt, EthelInstitute Invest Biomed Bellvitge IDIBELL LHospitalet, Spain (author)
Richer, JulieChildrens Hospital Eastern Ontario, Canada; University of Ottawa, Canada (author)
Roeder, ElizabethUniversity of Texas San Antonio, TX USA (author)
Sinha, AnubhaBirmingham Womens Hospital, England (author)
Scott, Richard H.Great Ormond St Hospital Sick Children, England; UCL Institute Child Heatlh, England (author)
So, JoyceCAMH, Canada; University of Health Network, Canada; Mt Sinai Hospital, Canada; University of Toronto, Canada (author)
Wusik, Katherine A.Cincinnati Childrens Hospital Medical Centre, OH 45229 USA (author)
Wilson, LouiseGreat Ormond St Hospital Sick Children, England (author)
Zhang, JianguoBGI Shenzhen, Peoples R China (author)
Gomez-Puertas, PaulinoCentre Biol Molecular Severo Ochoa CSIC UAM, Spain (author)
Casale, Cesar H.National University of Rio Cuarto, Argentina (author)
Stroem, LenaKarolinska Institute, Sweden (author)
Selicorni, AngeloUniversity of Milano Bicocca, Italy (author)
Ramos, Feliciano J.University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain; Hospital Clin University of Lozano Blesa, Spain (author)
Jackson, Laird G.Drexel University, PA 19104 USA (author)
Krantz, Ian D.Childrens Hospital Philadelphia, PA 19104 USA; University of Penn, PA 19104 USA (author)
Das, SomaUniversity of Chicago, IL 60637 USA (author)
Hennekam, Raoul C. M.University of Amsterdam, Netherlands (author)
Kaiser, Frank J.Medical University of Lubeck, Germany (author)
FitzPatrick, David R.University of Edinburgh, Scotland (author)
Pie, JuanUniversity of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain (author)
University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, SpainChildrens Hospital Philadelphia, PA 19104 USA; University of Penn, PA 19104 USA (creator_code:org_t)

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In:Human Mutation: Wiley: 12 months36:4, s. 454-4621059-77941098-1004

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By the author/editor: Concepcion Gil-R ...; Deardorff, Matth ...; Ansari, Morad; Tan, Christopher ...; Parenti, Ilaria; Baquero-Montoya, ...; show more...; Ousager, Lilian ...; Puisac, Beatriz; Hernandez-Marcos ...; Esperanza Teresa ...; Marcos-Alcalde, ...; Wesselink, Jan-J ...; Lusa-Bernal, Sil ...; Bijlsma, Emilia ...; Braunholz, Diana; Bueno-Martinez, ...; Clark, Dinah; Cooper, Nicola S ...; Curry, Cynthia J ...; Fisher, Richard; Fryer, Alan; Ganesh, Jaya; Gervasini, Crist ...; Gillessen-Kaesba ...; Guo, Yiran; Hakonarson, Hako ...; Hopkin, Robert J ...; Kaur, Maninder; Keating, Brendan ...; Kibaek, Maria; Kinning, Esther; Kleefstra, Tjits ...; Kline, Antonie D ...; Kuchinskaya, Eka ...; Larizza, Lidia; Li, Yun R.; Liu, Xuanzhu; Mariani, Milena; Picker, Jonathan ...; Pie, Angeles; Pozojevic, Jelen ...; Queralt, Ethel; Richer, Julie; Roeder, Elizabet ...; Sinha, Anubha; Scott, Richard H ...; So, Joyce; Wusik, Katherine ...; Wilson, Louise; Zhang, Jianguo; Gomez-Puertas, P ...; Casale, Cesar H.; Stroem, Lena; Selicorni, Angel ...; Ramos, Feliciano ...; Jackson, Laird G ...; Krantz, Ian D.; Das, Soma; Hennekam, Raoul ...; Kaiser, Frank J.; FitzPatrick, Dav ...; Pie, Juan; show less...

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