Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

M. Alders; B.M. Hogan; E. Gjini; F. Salehi; L. Al-Gazali; E.A. Hennekam; E.E. Holmberg; M.M. Mannens; M.F. Mulder; G.J.A. Offerhaus; T.E. Prescott; E.J. Schroor; J.B. Verheij; M. de Witte; P.J. Zwijnenburg; M. Vikkula; S. Schulte-Merker; R. Hennekam

doi:10.1038/ng.484

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

M. Alders, B.M. Hogan, E. Gjini, F. Salehi, L. Al-Gazali, E.A. Hennekam, E.E. Holmberg, M.M. Mannens, M.F. Mulder, G.J.A. Offerhaus, T.E. Prescott, E.J. Schroor, J.B. Verheij, M. de Witte, P.J. Zwijnenburg, M. Vikkula, S. Schulte-Merker, R. Hennekam

Hubrecht Institute

Research output: Contribution to journal/periodical › Article › Scientific › peer-review

248 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
Journal	Nature Genetics
Volume	41
Issue number	12
DOIs	https://doi.org/10.1038/ng.484
Publication status	Published - 2009

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

@article{25ed85ec2a894db99359c56eb3b2d78e,

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 = "M. Alders and B.M. Hogan and E. Gjini and F. Salehi and L. Al-Gazali and E.A. Hennekam and E.E. Holmberg and M.M. Mannens and M.F. Mulder and G.J.A. Offerhaus and T.E. Prescott and E.J. Schroor and J.B. Verheij and {de Witte}, M. and P.J. Zwijnenburg and M. Vikkula and S. Schulte-Merker and R. Hennekam",

note = "Reporting year: 2009",

year = "2009",

doi = "10.1038/ng.484",

language = "English",

volume = "41",

pages = "1272--1274",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "12",

}

Alders, M, Hogan, BM, Gjini, E, Salehi, F, Al-Gazali, L, Hennekam, EA, Holmberg, EE, Mannens, MM, Mulder, MF, Offerhaus, GJA, Prescott, TE, Schroor, EJ, Verheij, JB, de Witte, M, Zwijnenburg, PJ, Vikkula, M, Schulte-Merker, S & Hennekam, R 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

TY - JOUR

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

AU - Alders, M.

AU - Hogan, B.M.

AU - Gjini, E.

AU - Salehi, F.

AU - Al-Gazali, L.

AU - Hennekam, E.A.

AU - Holmberg, E.E.

AU - Mannens, M.M.

AU - Mulder, M.F.

AU - Offerhaus, G.J.A.

AU - Prescott, T.E.

AU - Schroor, E.J.

AU - Verheij, J.B.

AU - de Witte, M.

AU - Zwijnenburg, P.J.

AU - Vikkula, M.

AU - Schulte-Merker, S.

AU - Hennekam, R.

N1 - Reporting year: 2009

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.

U2 - 10.1038/ng.484

DO - 10.1038/ng.484

M3 - Article

SN - 1061-4036

VL - 41

SP - 1272

EP - 1274

JO - Nature Genetics

JF - Nature Genetics

IS - 12

ER -

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

Abstract

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