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^*

^*Korrespondierende/r Autor/-in für diese Arbeit

Institut für Humangenetik

59 Zitate (Scopus)

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.

Originalsprache	Englisch
Zeitschrift	European Journal of Human Genetics
Jahrgang	17
Ausgabenummer	3
Seiten (von - bis)	395-400
Seitenumfang	6
ISSN	1018-4813
DOIs	https://doi.org/10.1038/ejhg.2008.200
Publikationsstatus	Veröffentlicht - 01.01.2009

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SDG 3 – Gesundheit und Wohlergehen

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Querschnittsbereich: Medizinische Genetik

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10.1038/ejhg.2008.200

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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

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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",

year = "2009",

month = jan,

day = "1",

doi = "10.1038/ejhg.2008.200",

language = "English",

volume = "17",

pages = "395--400",

journal = "European Journal of Human Genetics",

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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, Jg. 17, Nr. 3, S. 395-400. https://doi.org/10.1038/ejhg.2008.200

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

PY - 2009/1/1

Y1 - 2009/1/1

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 - https://www.scopus.com/pages/publications/60749135834

U2 - 10.1038/ejhg.2008.200

DO - 10.1038/ejhg.2008.200

M3 - Journal articles

C2 - 19225462

AN - SCOPUS:60749135834

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

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