A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

Céline Huber; Anee Lise Delezoide; Fabien Guimiot; Clarisse Baumann; Valérie Malan; Martine Le Merrer; Daniela Bezerra Da Silva; Dominique Bonneau; Pierre Chatelain; Carol Chu; Robin Clark; Helen Cox; Patrick Edery; Thomas Edouard; Virginia Fano; Kate Gibson; Gabriele Gillessen-Kaesbach; Maria Luisa Giovannucci-Uzielli; Luitgard Margarete Graul-Neumann; Johana Maria van Hagen; Liselot van Hest; Dafne Horovitz; Judith Melki; Carl Joachim Partsch; Henry Plauchu; Anna Rajab; Massimiliano Rossi; David Sillence; Elisabeth Steichen-Gersdorf; Helen Stewart; Sheila Unger; Martin Zenker; Arnold Munnich; Valérie Cormier-Daire

doi:10.1038/ejhg.2008.200

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

Céline Huber, Anee Lise Delezoide, Fabien Guimiot, Clarisse Baumann, Valérie Malan, Martine Le Merrer, Daniela Bezerra Da Silva, Dominique Bonneau, Pierre Chatelain, Carol Chu, Robin Clark, Helen Cox, Patrick Edery, Thomas Edouard, Virginia Fano, Kate Gibson, Gabriele Gillessen-Kaesbach, Maria Luisa Giovannucci-Uzielli, Luitgard Margarete Graul-Neumann, Johana Maria van HagenLiselot van Hest, Dafne Horovitz, Judith Melki, Carl Joachim Partsch, Henry Plauchu, Anna Rajab, Massimiliano Rossi, David Sillence, Elisabeth Steichen-Gersdorf, Helen Stewart, Sheila Unger, Martin Zenker, Arnold Munnich, Valérie Cormier-Daire

Research output: Contribution to journal › Article › peer-review

Abstract

The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious CUL7 mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chromosome 6 encompassing a CUL7 mutation. Lack of mutations in 10/33 cases and exclusion of the CUL7 locus on chromosome 6p21.1 in six consanguineous families strongly support the genetic heterogeneity of the 3M syndrome.

Original language	English
Pages (from-to)	395-400
Number of pages	6
Journal	European Journal of Human Genetics
Volume	17
Issue number	3
DOIs	https://doi.org/10.1038/ejhg.2008.200
State	Published - 2009

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

Access to Document

10.1038/ejhg.2008.200

OpenUrl availability

Full text

Cite this

Huber, C., Delezoide, A. L., Guimiot, F., Baumann, C., Malan, V., Le Merrer, M., Da Silva, D. B., Bonneau, D., Chatelain, P., Chu, C., Clark, R., Cox, H., Edery, P., Edouard, T., Fano, V., Gibson, K., Gillessen-Kaesbach, G., Giovannucci-Uzielli, M. L., Graul-Neumann, L. M., ... Cormier-Daire, V. (2009). A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. European Journal of Human Genetics, 17(3), 395-400. https://doi.org/10.1038/ejhg.2008.200

Huber, C, Delezoide, AL, Guimiot, F, Baumann, C, Malan, V, Le Merrer, M, Da Silva, DB, Bonneau, D, Chatelain, P, Chu, C, Clark, R, Cox, H, Edery, P, Edouard, T, Fano, V, Gibson, K, Gillessen-Kaesbach, G, Giovannucci-Uzielli, ML, Graul-Neumann, LM, van Hagen, JM, van Hest, L, Horovitz, D, Melki, J, Partsch, CJ, Plauchu, H, Rajab, A, Rossi, M, Sillence, D, Steichen-Gersdorf, E, Stewart, H, Unger, S, Zenker, M, Munnich, A & Cormier-Daire, V 2009, 'A large-scale mutation search reveals genetic heterogeneity in 3M syndrome', European Journal of Human Genetics, vol. 17, no. 3, pp. 395-400. https://doi.org/10.1038/ejhg.2008.200

@article{40b7b9b6e84b44338c47e5f85bb44980,

title = "A large-scale mutation search reveals genetic heterogeneity in 3M syndrome",

abstract = "The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious CUL7 mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chromosome 6 encompassing a CUL7 mutation. Lack of mutations in 10/33 cases and exclusion of the CUL7 locus on chromosome 6p21.1 in six consanguineous families strongly support the genetic heterogeneity of the 3M syndrome.",

author = "C{\'e}line Huber and Delezoide, {Anee Lise} and Fabien Guimiot and Clarisse Baumann and Val{\'e}rie Malan and {Le Merrer}, Martine and {Da Silva}, {Daniela Bezerra} and Dominique Bonneau and Pierre Chatelain and Carol Chu and Robin Clark and Helen Cox and Patrick Edery and Thomas Edouard and Virginia Fano and Kate Gibson and Gabriele Gillessen-Kaesbach and Giovannucci-Uzielli, {Maria Luisa} and Graul-Neumann, {Luitgard Margarete} and {van Hagen}, {Johana Maria} and {van Hest}, Liselot and Dafne Horovitz and Judith Melki and Partsch, {Carl Joachim} and Henry Plauchu and Anna Rajab and Massimiliano Rossi and David Sillence and Elisabeth Steichen-Gersdorf and Helen Stewart and Sheila Unger and Martin Zenker and Arnold Munnich and Val{\'e}rie Cormier-Daire",

note = "Funding Information: 1Universit{\'e} Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, H{\^o}pital Necker Enfants Malades, Paris, France; 2Department of Developmental Biology, Universit{\'e} Paris Diderot, AP-HP, H{\^o}pital Robert Debr{\'e}, Paris, France; 3Department of Genetics, AP-HP, H{\^o}pital Robert Debr{\'e}, Paris, France; 4Service de g{\'e}n{\'e}tique, CHU Sainte Justine, Montreal, Canada; 5Department of Biochemistry and Medical Genetics and INSERM, U694, Angers, France; 6Service d{\textquoteright}endocrinologie, Hopital Debrousse 2, Lyon, France; 7Yorkshire Regional Genetic Service, Leeds Teaching Hospitals Trust, Leeds, UK; 8Division of Clinical Genetics, Department of Pediatrics, Loma Linda School of Medicine, Loma Linda, USA;9West Midlands Regional Clinical Genetics Service, Clinical Genetics Unit, Birmingham Women{\textquoteright}s Hospital, Birmingham, UK; 10Service de Cytog{\'e}n{\'e}tique Constitutionnelle, Hospices Civils de Lyon, Lyon, France; 11Service d{\textquoteright}Endocrinologie P{\'e}diatrique, Hopital Purpan, Toulouse, France; 12Hospital JP Garrahan, Combate de los Pozos 1881, Buenos Aires, Argentina; 13Genetic Health Queensland, Royal Children{\textquoteright}s Hospital, Brisbane, Australia; 14Institut f{\"u}r Humangenetik Universit{\"a}t zu L{\"u}beck, L{\"u}beck, Germany; 15Department of Paediatrics, Genetics and Molecular Medicine, University of Florence, Firenze, Italy; 16Institute of Human Genetics, Charit{\'e}, Campus Virchow-Klinikum, Berlin, Germany; 17Department of Clinical Genetics, VU university medical centre, Amsterdam, The Netherlands; 18Centro de Gen{\'e}tica M{\'e}dica, Instituto Fernandes Figueira, Rio de Janeiro, Brazil; 19Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel; 20St{\"a}dtische Kliniken Esslingen, Klinik f{\"u}r Kinder und Jugendliche, Esslingen, Germany; 21Service de G{\'e}n{\'e}tique, H{\^o}pital de l{\textquoteright}H{\^o}tel-Dieu, Lyon, France; 22Royal Hospital, Goverment of Muscat 113, Oman, UAE; 23Department of Pediatrics, Federico II University, Naples, Italy; 24Discipline of Genetic Medicine, The Children{\textquoteright}s Hospital at Westmead Clinical School, Westmead, Australia; 25Universit{\"a}tsklinik f{\"u}r Kinder-und Jugendheilkunde, Innsbruck, Austria; 26Department of Clinical genetics, Churchill Hospital, Oxford, UK; 27Institute of Human Genetics, Freiburg, Germany; 28Institute of Human Genetics, University Hospital, Erlangen, University of Erlangen-Nuremberg, Germany",

year = "2009",

doi = "10.1038/ejhg.2008.200",

language = "English",

volume = "17",

pages = "395--400",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

number = "3",

}

TY - JOUR

T1 - A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

AU - Huber, Céline

AU - Delezoide, Anee Lise

AU - Guimiot, Fabien

AU - Baumann, Clarisse

AU - Malan, Valérie

AU - Le Merrer, Martine

AU - Da Silva, Daniela Bezerra

AU - Bonneau, Dominique

AU - Chatelain, Pierre

AU - Chu, Carol

AU - Clark, Robin

AU - Cox, Helen

AU - Edery, Patrick

AU - Edouard, Thomas

AU - Fano, Virginia

AU - Gibson, Kate

AU - Gillessen-Kaesbach, Gabriele

AU - Giovannucci-Uzielli, Maria Luisa

AU - Graul-Neumann, Luitgard Margarete

AU - van Hagen, Johana Maria

AU - van Hest, Liselot

AU - Horovitz, Dafne

AU - Melki, Judith

AU - Partsch, Carl Joachim

AU - Plauchu, Henry

AU - Rajab, Anna

AU - Rossi, Massimiliano

AU - Sillence, David

AU - Steichen-Gersdorf, Elisabeth

AU - Stewart, Helen

AU - Unger, Sheila

AU - Zenker, Martin

AU - Munnich, Arnold

AU - Cormier-Daire, Valérie

N1 - Funding Information: 1Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades, Paris, France; 2Department of Developmental Biology, Université Paris Diderot, AP-HP, Hôpital Robert Debré, Paris, France; 3Department of Genetics, AP-HP, Hôpital Robert Debré, Paris, France; 4Service de génétique, CHU Sainte Justine, Montreal, Canada; 5Department of Biochemistry and Medical Genetics and INSERM, U694, Angers, France; 6Service d’endocrinologie, Hopital Debrousse 2, Lyon, France; 7Yorkshire Regional Genetic Service, Leeds Teaching Hospitals Trust, Leeds, UK; 8Division of Clinical Genetics, Department of Pediatrics, Loma Linda School of Medicine, Loma Linda, USA;9West Midlands Regional Clinical Genetics Service, Clinical Genetics Unit, Birmingham Women’s Hospital, Birmingham, UK; 10Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Lyon, France; 11Service d’Endocrinologie Pédiatrique, Hopital Purpan, Toulouse, France; 12Hospital JP Garrahan, Combate de los Pozos 1881, Buenos Aires, Argentina; 13Genetic Health Queensland, Royal Children’s Hospital, Brisbane, Australia; 14Institut für Humangenetik Universität zu Lübeck, Lübeck, Germany; 15Department of Paediatrics, Genetics and Molecular Medicine, University of Florence, Firenze, Italy; 16Institute of Human Genetics, Charité, Campus Virchow-Klinikum, Berlin, Germany; 17Department of Clinical Genetics, VU university medical centre, Amsterdam, The Netherlands; 18Centro de Genética Médica, Instituto Fernandes Figueira, Rio de Janeiro, Brazil; 19Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel; 20Städtische Kliniken Esslingen, Klinik für Kinder und Jugendliche, Esslingen, Germany; 21Service de Génétique, Hôpital de l’Hôtel-Dieu, Lyon, France; 22Royal Hospital, Goverment of Muscat 113, Oman, UAE; 23Department of Pediatrics, Federico II University, Naples, Italy; 24Discipline of Genetic Medicine, The Children’s Hospital at Westmead Clinical School, Westmead, Australia; 25Universitätsklinik für Kinder-und Jugendheilkunde, Innsbruck, Austria; 26Department of Clinical genetics, Churchill Hospital, Oxford, UK; 27Institute of Human Genetics, Freiburg, Germany; 28Institute of Human Genetics, University Hospital, Erlangen, University of Erlangen-Nuremberg, Germany

PY - 2009

Y1 - 2009

N2 - The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious CUL7 mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chromosome 6 encompassing a CUL7 mutation. Lack of mutations in 10/33 cases and exclusion of the CUL7 locus on chromosome 6p21.1 in six consanguineous families strongly support the genetic heterogeneity of the 3M syndrome.

AB - The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious CUL7 mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chromosome 6 encompassing a CUL7 mutation. Lack of mutations in 10/33 cases and exclusion of the CUL7 locus on chromosome 6p21.1 in six consanguineous families strongly support the genetic heterogeneity of the 3M syndrome.

UR - http://www.scopus.com/inward/record.url?scp=60749135834&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=60749135834&partnerID=8YFLogxK

U2 - 10.1038/ejhg.2008.200

DO - 10.1038/ejhg.2008.200

M3 - Article

C2 - 19225462

SN - 1018-4813

VL - 17

SP - 395

EP - 400

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 3

ER -

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

Abstract

ASJC Scopus Subject Areas

Access to Document

OpenUrl availability

Other files and links

Cite this