Publication

A homozygous variant in growth and differentiation factor 2(GDF2)may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis

Aukema, S. M., ten Brinke, G. A., Timens, W., Vos, Y. J., Accord, R. E., Kraft, K. E., Santing, M. J., Morssink, L. P., Streefland, E., van Diemen, C. C., Vrijlandt, E. J. L. E., Hulzebos, C. & Kerstjens-Frederikse, W. S., 2-Jul-2020, In : American Journal of Medical Genetics. Part A. 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

APA

Aukema, S. M., ten Brinke, G. A., Timens, W., Vos, Y. J., Accord, R. E., Kraft, K. E., ... Kerstjens-Frederikse, W. S. (2020). A homozygous variant in growth and differentiation factor 2(GDF2)may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis. American Journal of Medical Genetics. Part A. https://doi.org/10.1002/ajmg.a.61743

Author

Aukema, Sietse M. ; ten Brinke, Gerdien A. ; Timens, Wim ; Vos, Yvonne J. ; Accord, Ryan E. ; Kraft, Karianne E. ; Santing, Michiel J. ; Morssink, Leonard P. ; Streefland, Esther ; van Diemen, Cleo C. ; Vrijlandt, Elianne J. L. E. ; Hulzebos, Christian ; Kerstjens-Frederikse, Wilhelmina S. / A homozygous variant in growth and differentiation factor 2(GDF2)may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis. In: American Journal of Medical Genetics. Part A. 2020.

Harvard

Aukema, SM, ten Brinke, GA, Timens, W, Vos, YJ, Accord, RE, Kraft, KE, Santing, MJ, Morssink, LP, Streefland, E, van Diemen, CC, Vrijlandt, EJLE, Hulzebos, C & Kerstjens-Frederikse, WS 2020, 'A homozygous variant in growth and differentiation factor 2(GDF2)may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis', American Journal of Medical Genetics. Part A. https://doi.org/10.1002/ajmg.a.61743

Standard

A homozygous variant in growth and differentiation factor 2(GDF2)may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis. / Aukema, Sietse M.; ten Brinke, Gerdien A.; Timens, Wim; Vos, Yvonne J.; Accord, Ryan E.; Kraft, Karianne E.; Santing, Michiel J.; Morssink, Leonard P.; Streefland, Esther; van Diemen, Cleo C.; Vrijlandt, Elianne J. L. E.; Hulzebos, Christian; Kerstjens-Frederikse, Wilhelmina S.

In: American Journal of Medical Genetics. Part A, 02.07.2020.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

Aukema SM, ten Brinke GA, Timens W, Vos YJ, Accord RE, Kraft KE et al. A homozygous variant in growth and differentiation factor 2(GDF2)may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis. American Journal of Medical Genetics. Part A. 2020 Jul 2. https://doi.org/10.1002/ajmg.a.61743


BibTeX

@article{f6dac0af8372469e80f9c7c79a7fd79e,
title = "A homozygous variant in growth and differentiation factor 2(GDF2)may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis",
abstract = "The etiology of nonimmune hydrops fetalis is extensive and includes genetic disorders. We describe a term-born female neonate with late onset extensive nonimmune hydrops, that is, polyhydramnios, edema, and congenital bilateral chylothorax. This newborn was successfully treated with repetitive thoracocentesis, total parenteral feeding, octreotide intravenously and finally surgical pleurodesis and corticosteroids. A genetic cause seemed plausible as the maternal history revealed a fatal nonimmune hydrops fetalis. A homozygous truncating variant inGDF2(c.451C>T, p.(Arg151*)) was detected with exome sequencing. Genetic analysis of tissue obtained from the deceased fetal sibling revealed the same homozygous variant. The parents and two healthy siblings were heterozygous for theGDF2variant. Skin and lung biopsies in the index patient, as well as the revised lung biopsy of the deceased fetal sibling, showed lymphatic dysplasia and lymphangiectasia. To the best of our knowledge, this is the first report of an association between a homozygous variant inGDF2with lymphatic dysplasia, hydrothorax and nonimmune hydrops fetalis.",
keywords = "BMP9, GDF2, hereditary hemorrhagic telangiectasia, lymphatic dysplasia, nonimmune hydrops fetalis, pulmonary arterial hypertension, PULMONARY INTERSTITIAL GLYCOGENOSIS, PROTEIN 9, KINASE 1, MUTATIONS, PHENOTYPE, TRISOMY-20, KNOWLEDGE, SPECTRUM, INSIGHTS",
author = "Aukema, {Sietse M.} and {ten Brinke}, {Gerdien A.} and Wim Timens and Vos, {Yvonne J.} and Accord, {Ryan E.} and Kraft, {Karianne E.} and Santing, {Michiel J.} and Morssink, {Leonard P.} and Esther Streefland and {van Diemen}, {Cleo C.} and Vrijlandt, {Elianne J. L. E.} and Christian Hulzebos and Kerstjens-Frederikse, {Wilhelmina S.}",
note = "{\circledC} 2020 Wiley Periodicals LLC.",
year = "2020",
month = "7",
day = "2",
doi = "10.1002/ajmg.a.61743",
language = "English",
journal = "American Journal of Medical Genetics. Part A",
issn = "1552-4825",
publisher = "Wiley",

}

RIS

TY - JOUR

T1 - A homozygous variant in growth and differentiation factor 2(GDF2)may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis

AU - Aukema, Sietse M.

AU - ten Brinke, Gerdien A.

AU - Timens, Wim

AU - Vos, Yvonne J.

AU - Accord, Ryan E.

AU - Kraft, Karianne E.

AU - Santing, Michiel J.

AU - Morssink, Leonard P.

AU - Streefland, Esther

AU - van Diemen, Cleo C.

AU - Vrijlandt, Elianne J. L. E.

AU - Hulzebos, Christian

AU - Kerstjens-Frederikse, Wilhelmina S.

N1 - © 2020 Wiley Periodicals LLC.

PY - 2020/7/2

Y1 - 2020/7/2

N2 - The etiology of nonimmune hydrops fetalis is extensive and includes genetic disorders. We describe a term-born female neonate with late onset extensive nonimmune hydrops, that is, polyhydramnios, edema, and congenital bilateral chylothorax. This newborn was successfully treated with repetitive thoracocentesis, total parenteral feeding, octreotide intravenously and finally surgical pleurodesis and corticosteroids. A genetic cause seemed plausible as the maternal history revealed a fatal nonimmune hydrops fetalis. A homozygous truncating variant inGDF2(c.451C>T, p.(Arg151*)) was detected with exome sequencing. Genetic analysis of tissue obtained from the deceased fetal sibling revealed the same homozygous variant. The parents and two healthy siblings were heterozygous for theGDF2variant. Skin and lung biopsies in the index patient, as well as the revised lung biopsy of the deceased fetal sibling, showed lymphatic dysplasia and lymphangiectasia. To the best of our knowledge, this is the first report of an association between a homozygous variant inGDF2with lymphatic dysplasia, hydrothorax and nonimmune hydrops fetalis.

AB - The etiology of nonimmune hydrops fetalis is extensive and includes genetic disorders. We describe a term-born female neonate with late onset extensive nonimmune hydrops, that is, polyhydramnios, edema, and congenital bilateral chylothorax. This newborn was successfully treated with repetitive thoracocentesis, total parenteral feeding, octreotide intravenously and finally surgical pleurodesis and corticosteroids. A genetic cause seemed plausible as the maternal history revealed a fatal nonimmune hydrops fetalis. A homozygous truncating variant inGDF2(c.451C>T, p.(Arg151*)) was detected with exome sequencing. Genetic analysis of tissue obtained from the deceased fetal sibling revealed the same homozygous variant. The parents and two healthy siblings were heterozygous for theGDF2variant. Skin and lung biopsies in the index patient, as well as the revised lung biopsy of the deceased fetal sibling, showed lymphatic dysplasia and lymphangiectasia. To the best of our knowledge, this is the first report of an association between a homozygous variant inGDF2with lymphatic dysplasia, hydrothorax and nonimmune hydrops fetalis.

KW - BMP9

KW - GDF2

KW - hereditary hemorrhagic telangiectasia

KW - lymphatic dysplasia

KW - nonimmune hydrops fetalis

KW - pulmonary arterial hypertension

KW - PULMONARY INTERSTITIAL GLYCOGENOSIS

KW - PROTEIN 9

KW - KINASE 1

KW - MUTATIONS

KW - PHENOTYPE

KW - TRISOMY-20

KW - KNOWLEDGE

KW - SPECTRUM

KW - INSIGHTS

U2 - 10.1002/ajmg.a.61743

DO - 10.1002/ajmg.a.61743

M3 - Article

C2 - 32618121

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

SN - 1552-4825

ER -

ID: 129090034