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:https://doi.org/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

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

241 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 - 2009

Keywords

Abnormalities, Multiple/genetics
Amino Acid Sequence
Animals
Consanguinity
Genes, Recessive
Heterozygote
Humans
Intellectual Disability/genetics
Lymphangiectasis/genetics
Lymphedema/genetics
Male
Molecular Sequence Data
Mutation
Pedigree
Phenotype
Syndrome
Young Adult

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https://doi.org/10.1038/ng.484

http://www.nature.com/ng/journal/v41/n12/pdf/ng.484.pdf

Cite this

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

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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.",

keywords = "Abnormalities, Multiple/genetics, Amino Acid Sequence, Animals, Consanguinity, Genes, Recessive, Heterozygote, Humans, Intellectual Disability/genetics, Lymphangiectasis/genetics, Lymphedema/genetics, Male, Molecular Sequence Data, Mutation, Pedigree, Phenotype, Syndrome, Young Adult",

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}",

year = "2009",

doi = "https://doi.org/10.1038/ng.484",

language = "English",

volume = "41",

pages = "1272--1274",

journal = "Nature Genetics",

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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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T1 - Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

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

PY - 2009

Y1 - 2009

N2 - 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.

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.

KW - Abnormalities, Multiple/genetics

KW - Amino Acid Sequence

KW - Animals

KW - Consanguinity

KW - Genes, Recessive

KW - Heterozygote

KW - Humans

KW - Intellectual Disability/genetics

KW - Lymphangiectasis/genetics

KW - Lymphedema/genetics

KW - Male

KW - Molecular Sequence Data

KW - Mutation

KW - Pedigree

KW - Phenotype

KW - Syndrome

KW - Young Adult

U2 - https://doi.org/10.1038/ng.484

DO - https://doi.org/10.1038/ng.484

M3 - Article

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SN - 1061-4036

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SP - 1272

EP - 1274

JO - Nature Genetics

JF - Nature Genetics

IS - 12

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