Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Marielle Alders; Benjamin M. Hogan; Evisa Gjini; Faranak Salehi; Lihadh Al-Gazali; Eric A. Hennekam; Eva E. Holmberg; Marcel M.A.M. Mannens; Margot F. Mulder; G. Johan A. Offerhaus; Trine E. Prescott; Eelco J. Schroor; Joke B.G.M. Verheij; Merlijn Witte; Petra J. Zwijnenburg; Mikka Vikkula; Stefan Schulte-Merker; Raoul C. Hennekam

doi:10.1038/ng.484

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Marielle Alders, Benjamin M. Hogan, Evisa Gjini, Faranak Salehi, Lihadh Al-Gazali, Eric A. Hennekam, Eva E. Holmberg, Marcel M.A.M. Mannens, Margot F. Mulder, G. Johan A. Offerhaus, Trine E. Prescott, Eelco J. Schroor, Joke B.G.M. Verheij, Merlijn Witte, Petra J. Zwijnenburg, Mikka Vikkula, Stefan Schulte-Merker, Raoul C. Hennekam

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234 Citations (Scopus)

Abstract

Lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics define the autosomal recessive Hennekam syndrome. Homozygosity mapping identified a critical chromosomal region containing CCBE1, the human ortholog of a gene essential for lymphangiogenesis in zebrafish. Homozygous and compound heterozygous mutations in seven subjects paired with functional analysis in a zebrafish model identify CCBE1 as one of few genes causing primary generalized lymph-vessel dysplasia in humans.

Original language	English
Pages (from-to)	1272-1274
Number of pages	3
Journal	Nature Genetics
Volume	41
Issue number	12
DOIs	https://doi.org/10.1038/ng.484
Publication status	Published - Dec 2009

ASJC Scopus subject areas

Genetics

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Alders, M., Hogan, B. M., Gjini, E., Salehi, F., Al-Gazali, L., Hennekam, E. A., Holmberg, E. E., Mannens, M. M. A. M., Mulder, M. F., Offerhaus, G. J. A., Prescott, T. E., Schroor, E. J., Verheij, J. B. G. M., Witte, M., Zwijnenburg, P. J., Vikkula, M., Schulte-Merker, S., & Hennekam, R. C. (2009). Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nature Genetics, 41(12), 1272-1274. https://doi.org/10.1038/ng.484

Alders, M, Hogan, BM, Gjini, E, Salehi, F, Al-Gazali, L, Hennekam, EA, Holmberg, EE, Mannens, MMAM, Mulder, MF, Offerhaus, GJA, Prescott, TE, Schroor, EJ, Verheij, JBGM, Witte, M, Zwijnenburg, PJ, Vikkula, M, Schulte-Merker, S & Hennekam, RC 2009, 'Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans', Nature Genetics, vol. 41, no. 12, pp. 1272-1274. https://doi.org/10.1038/ng.484

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title = "Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans",

abstract = "Lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics define the autosomal recessive Hennekam syndrome. Homozygosity mapping identified a critical chromosomal region containing CCBE1, the human ortholog of a gene essential for lymphangiogenesis in zebrafish. Homozygous and compound heterozygous mutations in seven subjects paired with functional analysis in a zebrafish model identify CCBE1 as one of few genes causing primary generalized lymph-vessel dysplasia in humans.",

author = "Marielle Alders and Hogan, {Benjamin M.} and Evisa Gjini and Faranak Salehi and Lihadh Al-Gazali and Hennekam, {Eric A.} and Holmberg, {Eva E.} and Mannens, {Marcel M.A.M.} and Mulder, {Margot F.} and Offerhaus, {G. Johan A.} and Prescott, {Trine E.} and Schroor, {Eelco J.} and Verheij, {Joke B.G.M.} and Merlijn Witte and Zwijnenburg, {Petra J.} and Mikka Vikkula and Stefan Schulte-Merker and Hennekam, {Raoul C.}",

note = "Funding Information: S.S.M. and E.G. were supported by the Koninklijke Nederlandse Akademie van Wetenschappen, B.M.H. by an Australian National Health and Medical Research Council CJ Martin Fellowship. M.J. Van De Vijver (Academic Medical Centre Amsterdam) provided gut biopsies of controls and H. Begthel (Hubrecht Institute, Utrecht) performed histology. T. Nilsson (McGill University) generously provided the GalNAcT2GFP cell line and A. Akhmanova (Erasmus Medical Center, Rotterdam) the NPY:mVenus cell line. We are grateful to the subjects and their families for their cooperation.",

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doi = "10.1038/ng.484",

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volume = "41",

pages = "1272--1274",

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AU - Alders, Marielle

AU - Hogan, Benjamin M.

AU - Gjini, Evisa

AU - Salehi, Faranak

AU - Al-Gazali, Lihadh

AU - Hennekam, Eric A.

AU - Holmberg, Eva E.

AU - Mannens, Marcel M.A.M.

AU - Mulder, Margot F.

AU - Offerhaus, G. Johan A.

AU - Prescott, Trine E.

AU - Schroor, Eelco J.

AU - Verheij, Joke B.G.M.

AU - Witte, Merlijn

AU - Zwijnenburg, Petra J.

AU - Vikkula, Mikka

AU - Schulte-Merker, Stefan

AU - Hennekam, Raoul C.

N1 - Funding Information: S.S.M. and E.G. were supported by the Koninklijke Nederlandse Akademie van Wetenschappen, B.M.H. by an Australian National Health and Medical Research Council CJ Martin Fellowship. M.J. Van De Vijver (Academic Medical Centre Amsterdam) provided gut biopsies of controls and H. Begthel (Hubrecht Institute, Utrecht) performed histology. T. Nilsson (McGill University) generously provided the GalNAcT2GFP cell line and A. Akhmanova (Erasmus Medical Center, Rotterdam) the NPY:mVenus cell line. We are grateful to the subjects and their families for their cooperation.

PY - 2009/12

Y1 - 2009/12

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AB - Lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics define the autosomal recessive Hennekam syndrome. Homozygosity mapping identified a critical chromosomal region containing CCBE1, the human ortholog of a gene essential for lymphangiogenesis in zebrafish. Homozygous and compound heterozygous mutations in seven subjects paired with functional analysis in a zebrafish model identify CCBE1 as one of few genes causing primary generalized lymph-vessel dysplasia in humans.

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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

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