Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Suzanna G. M. Frints; Friederike Hennig; Roberto Colombo; Sebastien Jacquemont; Paulien Terhal; Holly H. Zimmerman; David Hunt; Bryce A. Mendelsohn; Ulrike Kordass; Richard Webster; Margje Sinnema; Omar Abdul-Rahman; Vanessa Suckow; Alberto Fernandez-Jaen; Kees van Roozendaal; Servi J. C. Stevens; Merryn V. E. Macville; Salwan Al-Nasiry; Koen van Gassen; Norbert Utzig; Suzanne M. Koudijs; Lesley McGregor; Saskia M. Maas; Diana Baralle; Abhijit Dixit; Peter Wieacker; Marcus Lee; Arthur S. Lee; Elizabeth C. Engle; Gunnar Houge; Gyri A. Gradek; Andrew G. L. Douglas; Cheryl Longman; Shelagh Joss; Danita Velasco; Raoul C. Hennekam; Hiromi Hirata; Vera M. Kalscheuer

doi:10.1002/humu.23841

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Suzanna G. M. Frints^*, Friederike Hennig, Roberto Colombo, Sebastien Jacquemont, Paulien Terhal, Holly H. Zimmerman, David Hunt, Bryce A. Mendelsohn, Ulrike Kordass, Richard Webster, Margje Sinnema, Omar Abdul-Rahman, Vanessa Suckow, Alberto Fernandez-Jaen, Kees van Roozendaal, Servi J. C. Stevens, Merryn V. E. Macville, Salwan Al-Nasiry, Koen van Gassen, Norbert UtzigSuzanne M. Koudijs, Lesley McGregor, Saskia M. Maas, Diana Baralle, Abhijit Dixit, Peter Wieacker, Marcus Lee, Arthur S. Lee, Elizabeth C. Engle, Gunnar Houge, Gyri A. Gradek, Andrew G. L. Douglas, Cheryl Longman, Shelagh Joss, Danita Velasco, Raoul C. Hennekam, Hiromi Hirata, Vera M. Kalscheuer

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	2270-2285
Number of pages	16
Journal	Human Mutation
Volume	40
Issue number	12
DOIs	https://doi.org/10.1002/humu.23841
Publication status	Published - Dec 2019

Keywords

fetal hypo-
akinesia
club foot
-feet
complicated spastic paraplegia
spasticity
Xq11
2 microdeletion
INTELLECTUAL DISABILITY
MENTAL-RETARDATION
MUTATIONS
GENE
CONTRACTURES
SPECTRUM
METHYLATION
DIAGNOSIS
DELETIONS
EXCHANGE

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10.1002/humu.23841

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Frints, S. G. M., Hennig, F., Colombo, R., Jacquemont, S., Terhal, P., Zimmerman, H. H., Hunt, D., Mendelsohn, B. A., Kordass, U., Webster, R., Sinnema, M., Abdul-Rahman, O., Suckow, V., Fernandez-Jaen, A., van Roozendaal, K., Stevens, S. J. C., Macville, M. V. E., Al-Nasiry, S., van Gassen, K., ... Kalscheuer, V. M. (2019). Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human Mutation, 40(12), 2270-2285. https://doi.org/10.1002/humu.23841

Frints, Suzanna G. M. ; Hennig, Friederike ; Colombo, Roberto ; Jacquemont, Sebastien ; Terhal, Paulien ; Zimmerman, Holly H. ; Hunt, David ; Mendelsohn, Bryce A. ; Kordass, Ulrike ; Webster, Richard ; Sinnema, Margje ; Abdul-Rahman, Omar ; Suckow, Vanessa ; Fernandez-Jaen, Alberto ; van Roozendaal, Kees ; Stevens, Servi J. C. ; Macville, Merryn V. E. ; Al-Nasiry, Salwan ; van Gassen, Koen ; Utzig, Norbert ; Koudijs, Suzanne M. ; McGregor, Lesley ; Maas, Saskia M. ; Baralle, Diana ; Dixit, Abhijit ; Wieacker, Peter ; Lee, Marcus ; Lee, Arthur S. ; Engle, Elizabeth C. ; Houge, Gunnar ; Gradek, Gyri A. ; Douglas, Andrew G. L. ; Longman, Cheryl ; Joss, Shelagh ; Velasco, Danita ; Hennekam, Raoul C. ; Hirata, Hiromi ; Kalscheuer, Vera M. / Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. In: Human Mutation. 2019 ; Vol. 40, No. 12. pp. 2270-2285.

@article{cb4920f27ee64115a0b27f10ae17f71c,

title = "Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita",

keywords = "fetal hypo-, akinesia, club foot, -feet, complicated spastic paraplegia, spasticity, Xq11, 2 microdeletion, INTELLECTUAL DISABILITY, MENTAL-RETARDATION, MUTATIONS, GENE, CONTRACTURES, SPECTRUM, METHYLATION, DIAGNOSIS, DELETIONS, EXCHANGE",

author = "Frints, {Suzanna G. M.} and Friederike Hennig and Roberto Colombo and Sebastien Jacquemont and Paulien Terhal and Zimmerman, {Holly H.} and David Hunt and Mendelsohn, {Bryce A.} and Ulrike Kordass and Richard Webster and Margje Sinnema and Omar Abdul-Rahman and Vanessa Suckow and Alberto Fernandez-Jaen and {van Roozendaal}, Kees and Stevens, {Servi J. C.} and Macville, {Merryn V. E.} and Salwan Al-Nasiry and {van Gassen}, Koen and Norbert Utzig and Koudijs, {Suzanne M.} and Lesley McGregor and Maas, {Saskia M.} and Diana Baralle and Abhijit Dixit and Peter Wieacker and Marcus Lee and Lee, {Arthur S.} and Engle, {Elizabeth C.} and Gunnar Houge and Gradek, {Gyri A.} and Douglas, {Andrew G. L.} and Cheryl Longman and Shelagh Joss and Danita Velasco and Hennekam, {Raoul C.} and Hiromi Hirata and Kalscheuer, {Vera M.}",

year = "2019",

month = dec,

doi = "10.1002/humu.23841",

language = "English",

volume = "40",

pages = "2270--2285",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley",

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Frints, SGM, Hennig, F, Colombo, R, Jacquemont, S, Terhal, P, Zimmerman, HH, Hunt, D, Mendelsohn, BA, Kordass, U, Webster, R, Sinnema, M, Abdul-Rahman, O, Suckow, V, Fernandez-Jaen, A, van Roozendaal, K , Stevens, SJC , Macville, MVE , Al-Nasiry, S, van Gassen, K, Utzig, N, Koudijs, SM, McGregor, L, Maas, SM, Baralle, D, Dixit, A, Wieacker, P, Lee, M, Lee, AS, Engle, EC, Houge, G, Gradek, GA, Douglas, AGL, Longman, C, Joss, S, Velasco, D, Hennekam, RC, Hirata, H & Kalscheuer, VM 2019, 'Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita', Human Mutation, vol. 40, no. 12, pp. 2270-2285. https://doi.org/10.1002/humu.23841

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. / Frints, Suzanna G. M.; Hennig, Friederike; Colombo, Roberto; Jacquemont, Sebastien; Terhal, Paulien; Zimmerman, Holly H.; Hunt, David; Mendelsohn, Bryce A.; Kordass, Ulrike; Webster, Richard; Sinnema, Margje; Abdul-Rahman, Omar; Suckow, Vanessa; Fernandez-Jaen, Alberto; van Roozendaal, Kees ; Stevens, Servi J. C.; Macville, Merryn V. E.; Al-Nasiry, Salwan; van Gassen, Koen; Utzig, Norbert; Koudijs, Suzanne M.; McGregor, Lesley; Maas, Saskia M.; Baralle, Diana; Dixit, Abhijit; Wieacker, Peter; Lee, Marcus; Lee, Arthur S.; Engle, Elizabeth C.; Houge, Gunnar; Gradek, Gyri A.; Douglas, Andrew G. L.; Longman, Cheryl; Joss, Shelagh; Velasco, Danita; Hennekam, Raoul C.; Hirata, Hiromi; Kalscheuer, Vera M.

In: Human Mutation, Vol. 40, No. 12, 12.2019, p. 2270-2285.

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

TY - JOUR

T1 - Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

AU - Frints, Suzanna G. M.

AU - Hennig, Friederike

AU - Colombo, Roberto

AU - Jacquemont, Sebastien

AU - Terhal, Paulien

AU - Zimmerman, Holly H.

AU - Hunt, David

AU - Mendelsohn, Bryce A.

AU - Kordass, Ulrike

AU - Webster, Richard

AU - Sinnema, Margje

AU - Abdul-Rahman, Omar

AU - Suckow, Vanessa

AU - Fernandez-Jaen, Alberto

AU - van Roozendaal, Kees

AU - Stevens, Servi J. C.

AU - Macville, Merryn V. E.

AU - Al-Nasiry, Salwan

AU - van Gassen, Koen

AU - Utzig, Norbert

AU - Koudijs, Suzanne M.

AU - McGregor, Lesley

AU - Maas, Saskia M.

AU - Baralle, Diana

AU - Dixit, Abhijit

AU - Wieacker, Peter

AU - Lee, Marcus

AU - Lee, Arthur S.

AU - Engle, Elizabeth C.

AU - Houge, Gunnar

AU - Gradek, Gyri A.

AU - Douglas, Andrew G. L.

AU - Longman, Cheryl

AU - Joss, Shelagh

AU - Velasco, Danita

AU - Hennekam, Raoul C.

AU - Hirata, Hiromi

AU - Kalscheuer, Vera M.

PY - 2019/12

Y1 - 2019/12

KW - fetal hypo-

KW - akinesia

KW - club foot

KW - -feet

KW - complicated spastic paraplegia

KW - spasticity

KW - Xq11

KW - 2 microdeletion

KW - INTELLECTUAL DISABILITY

KW - MENTAL-RETARDATION

KW - MUTATIONS

KW - GENE

KW - CONTRACTURES

KW - SPECTRUM

KW - METHYLATION

KW - DIAGNOSIS

KW - DELETIONS

KW - EXCHANGE

U2 - 10.1002/humu.23841

DO - 10.1002/humu.23841

M3 - Article

VL - 40

SP - 2270

EP - 2285

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 12

ER -