Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Pleuntje J van der Sluijs; Marieke Joosten; Caroline Alby; Tania Attié-Bitach; Kelly Gilmore; Christele Dubourg; Mélanie Fradin; Tianyun Wang; Evangeline C Kurtz-Nelson; Kaitlyn P Ahlers; Peer Arts; Christopher P Barnett; Myla Ashfaq; Anwar Baban; Myrthe van den Born; Sarah Borrie; Tiffany Busa; Alicia Byrne; Miriam Carriero; Claudia Cesario; Karen Chong; Anna Maria Cueto-González; Jennifer C Dempsey; Karin E M Diderich; Dan Doherty; Stense Farholt; Erica H Gerkes; Svetlana Gorokhova; Lutgarde C P Govaerts; Pernille A Gregersen; Scott E Hickey; Mathilde Lefebvre; Francesca Mari; Jelena Martinovic; Hope Northrup; Melanie O'Leary; Kareesma Parbhoo; Sophie Patrier; Bernt Popp; Fernando Santos-Simarro; Corinna Stoltenburg; Christel Thauvin-Robinet; Elisabeth Thompson; Anneke T Vulto-van Silfhout; Farah R Zahir; Hamish S Scott; Rachel K Earl; Evan E Eichler; Neeta L Vora; Yael Wilnai; Jessica L Giordano; Ronald J Wapner; Jill A Rosenfeld; Monique C Haak; Gijs W E Santen

doi:10.1016/j.gim.2022.04.010

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C Kurtz-Nelson, Kaitlyn P Ahlers, Peer Arts, Christopher P Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia CesarioKaren Chong, Anna Maria Cueto-González, Jennifer C Dempsey, Karin E M Diderich, Dan Doherty, Stense Farholt, Erica H Gerkes, Svetlana Gorokhova, Lutgarde C P Govaerts, Pernille A Gregersen, Scott E Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O'Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T Vulto-van Silfhout, Farah R Zahir, Hamish S Scott, Rachel K Earl, Evan E Eichler, Neeta L Vora, Yael Wilnai, Jessica L Giordano, Ronald J Wapner, Jill A Rosenfeld, Monique C Haak, Gijs W E Santen

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Abstract

PURPOSE: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowledge of prenatal phenotypes. To better delineate the prenatal phenotype of Coffin-Siris syndrome (CSS), we collected clinical data from patients with a prenatal phenotype and a pathogenic variant in one of the CSS-associated genes.

METHODS: Clinical data was collected through an extensive web-based survey.

RESULTS: We included 44 patients with a variant in a CSS-associated gene and a prenatal phenotype; 9 of these patients have been reported before. Prenatal anomalies that were frequently observed in our cohort include hydrocephalus, agenesis of the corpus callosum, hypoplastic left heart syndrome, persistent left vena cava, diaphragmatic hernia, renal agenesis, and intrauterine growth restriction. Anal anomalies were frequently identified after birth in patients with ARID1A variants (6/14, 43%). Interestingly, pathogenic ARID1A variants were much more frequently identified in the current prenatal cohort (16/44, 36%) than in postnatal CSS cohorts (5%-9%).

CONCLUSION: Our data shed new light on the prenatal phenotype of patients with pathogenic variants in CSS genes.

Originalsprog	Engelsk
Tidsskrift	Genetics in medicine : official journal of the American College of Medical Genetics
Vol/bind	24
Udgave nummer	8
Sider (fra-til)	1753-1760
Antal sider	8
ISSN	1098-3600
DOI	https://doi.org/10.1016/j.gim.2022.04.010
Status	Udgivet - aug. 2022

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van der Sluijs, P. J., Joosten, M., Alby, C., Attié-Bitach, T., Gilmore, K., Dubourg, C., Fradin, M., Wang, T., Kurtz-Nelson, E. C., Ahlers, K. P., Arts, P., Barnett, C. P., Ashfaq, M., Baban, A., van den Born, M., Borrie, S., Busa, T., Byrne, A., Carriero, M., ... Santen, G. W. E. (2022). Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. Genetics in medicine : official journal of the American College of Medical Genetics, 24(8), 1753-1760. https://doi.org/10.1016/j.gim.2022.04.010

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. / van der Sluijs, Pleuntje J; Joosten, Marieke; Alby, Caroline et al.
I: Genetics in medicine : official journal of the American College of Medical Genetics, Bind 24, Nr. 8, 08.2022, s. 1753-1760.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

van der Sluijs, PJ, Joosten, M, Alby, C, Attié-Bitach, T, Gilmore, K, Dubourg, C, Fradin, M, Wang, T, Kurtz-Nelson, EC, Ahlers, KP, Arts, P, Barnett, CP, Ashfaq, M, Baban, A, van den Born, M, Borrie, S, Busa, T, Byrne, A, Carriero, M, Cesario, C, Chong, K, Cueto-González, AM, Dempsey, JC, Diderich, KEM, Doherty, D, Farholt, S, Gerkes, EH, Gorokhova, S, Govaerts, LCP, Gregersen, PA, Hickey, SE, Lefebvre, M, Mari, F, Martinovic, J, Northrup, H, O'Leary, M, Parbhoo, K, Patrier, S, Popp, B, Santos-Simarro, F, Stoltenburg, C, Thauvin-Robinet, C, Thompson, E, Vulto-van Silfhout, AT, Zahir, FR, Scott, HS, Earl, RK, Eichler, EE, Vora, NL, Wilnai, Y, Giordano, JL, Wapner, RJ, Rosenfeld, JA, Haak, MC & Santen, GWE 2022, 'Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort', Genetics in medicine : official journal of the American College of Medical Genetics, bind 24, nr. 8, s. 1753-1760. https://doi.org/10.1016/j.gim.2022.04.010

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title = "Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort",

abstract = "PURPOSE: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowledge of prenatal phenotypes. To better delineate the prenatal phenotype of Coffin-Siris syndrome (CSS), we collected clinical data from patients with a prenatal phenotype and a pathogenic variant in one of the CSS-associated genes.METHODS: Clinical data was collected through an extensive web-based survey.RESULTS: We included 44 patients with a variant in a CSS-associated gene and a prenatal phenotype; 9 of these patients have been reported before. Prenatal anomalies that were frequently observed in our cohort include hydrocephalus, agenesis of the corpus callosum, hypoplastic left heart syndrome, persistent left vena cava, diaphragmatic hernia, renal agenesis, and intrauterine growth restriction. Anal anomalies were frequently identified after birth in patients with ARID1A variants (6/14, 43%). Interestingly, pathogenic ARID1A variants were much more frequently identified in the current prenatal cohort (16/44, 36%) than in postnatal CSS cohorts (5%-9%).CONCLUSION: Our data shed new light on the prenatal phenotype of patients with pathogenic variants in CSS genes.",

author = "{van der Sluijs}, {Pleuntje J} and Marieke Joosten and Caroline Alby and Tania Atti{\'e}-Bitach and Kelly Gilmore and Christele Dubourg and M{\'e}lanie Fradin and Tianyun Wang and Kurtz-Nelson, {Evangeline C} and Ahlers, {Kaitlyn P} and Peer Arts and Barnett, {Christopher P} and Myla Ashfaq and Anwar Baban and {van den Born}, Myrthe and Sarah Borrie and Tiffany Busa and Alicia Byrne and Miriam Carriero and Claudia Cesario and Karen Chong and Cueto-Gonz{\'a}lez, {Anna Maria} and Dempsey, {Jennifer C} and Diderich, {Karin E M} and Dan Doherty and Stense Farholt and Gerkes, {Erica H} and Svetlana Gorokhova and Govaerts, {Lutgarde C P} and Gregersen, {Pernille A} and Hickey, {Scott E} and Mathilde Lefebvre and Francesca Mari and Jelena Martinovic and Hope Northrup and Melanie O'Leary and Kareesma Parbhoo and Sophie Patrier and Bernt Popp and Fernando Santos-Simarro and Corinna Stoltenburg and Christel Thauvin-Robinet and Elisabeth Thompson and {Vulto-van Silfhout}, {Anneke T} and Zahir, {Farah R} and Scott, {Hamish S} and Earl, {Rachel K} and Eichler, {Evan E} and Vora, {Neeta L} and Yael Wilnai and Giordano, {Jessica L} and Wapner, {Ronald J} and Rosenfeld, {Jill A} and Haak, {Monique C} and Santen, {Gijs W E}",

year = "2022",

month = aug,

doi = "10.1016/j.gim.2022.04.010",

language = "English",

volume = "24",

pages = "1753--1760",

journal = "Genetics in medicine : official journal of the American College of Medical Genetics",

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number = "8",

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T1 - Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

AU - van der Sluijs, Pleuntje J

AU - Joosten, Marieke

AU - Alby, Caroline

AU - Attié-Bitach, Tania

AU - Gilmore, Kelly

AU - Dubourg, Christele

AU - Fradin, Mélanie

AU - Wang, Tianyun

AU - Kurtz-Nelson, Evangeline C

AU - Ahlers, Kaitlyn P

AU - Arts, Peer

AU - Barnett, Christopher P

AU - Ashfaq, Myla

AU - Baban, Anwar

AU - van den Born, Myrthe

AU - Borrie, Sarah

AU - Busa, Tiffany

AU - Byrne, Alicia

AU - Carriero, Miriam

AU - Cesario, Claudia

AU - Chong, Karen

AU - Cueto-González, Anna Maria

AU - Dempsey, Jennifer C

AU - Diderich, Karin E M

AU - Doherty, Dan

AU - Farholt, Stense

AU - Gerkes, Erica H

AU - Gorokhova, Svetlana

AU - Govaerts, Lutgarde C P

AU - Gregersen, Pernille A

AU - Hickey, Scott E

AU - Lefebvre, Mathilde

AU - Mari, Francesca

AU - Martinovic, Jelena

AU - Northrup, Hope

AU - O'Leary, Melanie

AU - Parbhoo, Kareesma

AU - Patrier, Sophie

AU - Popp, Bernt

AU - Santos-Simarro, Fernando

AU - Stoltenburg, Corinna

AU - Thauvin-Robinet, Christel

AU - Thompson, Elisabeth

AU - Vulto-van Silfhout, Anneke T

AU - Zahir, Farah R

AU - Scott, Hamish S

AU - Earl, Rachel K

AU - Eichler, Evan E

AU - Vora, Neeta L

AU - Wilnai, Yael

AU - Giordano, Jessica L

AU - Wapner, Ronald J

AU - Rosenfeld, Jill A

AU - Haak, Monique C

AU - Santen, Gijs W E

PY - 2022/8

Y1 - 2022/8

N2 - PURPOSE: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowledge of prenatal phenotypes. To better delineate the prenatal phenotype of Coffin-Siris syndrome (CSS), we collected clinical data from patients with a prenatal phenotype and a pathogenic variant in one of the CSS-associated genes.METHODS: Clinical data was collected through an extensive web-based survey.RESULTS: We included 44 patients with a variant in a CSS-associated gene and a prenatal phenotype; 9 of these patients have been reported before. Prenatal anomalies that were frequently observed in our cohort include hydrocephalus, agenesis of the corpus callosum, hypoplastic left heart syndrome, persistent left vena cava, diaphragmatic hernia, renal agenesis, and intrauterine growth restriction. Anal anomalies were frequently identified after birth in patients with ARID1A variants (6/14, 43%). Interestingly, pathogenic ARID1A variants were much more frequently identified in the current prenatal cohort (16/44, 36%) than in postnatal CSS cohorts (5%-9%).CONCLUSION: Our data shed new light on the prenatal phenotype of patients with pathogenic variants in CSS genes.

AB - PURPOSE: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowledge of prenatal phenotypes. To better delineate the prenatal phenotype of Coffin-Siris syndrome (CSS), we collected clinical data from patients with a prenatal phenotype and a pathogenic variant in one of the CSS-associated genes.METHODS: Clinical data was collected through an extensive web-based survey.RESULTS: We included 44 patients with a variant in a CSS-associated gene and a prenatal phenotype; 9 of these patients have been reported before. Prenatal anomalies that were frequently observed in our cohort include hydrocephalus, agenesis of the corpus callosum, hypoplastic left heart syndrome, persistent left vena cava, diaphragmatic hernia, renal agenesis, and intrauterine growth restriction. Anal anomalies were frequently identified after birth in patients with ARID1A variants (6/14, 43%). Interestingly, pathogenic ARID1A variants were much more frequently identified in the current prenatal cohort (16/44, 36%) than in postnatal CSS cohorts (5%-9%).CONCLUSION: Our data shed new light on the prenatal phenotype of patients with pathogenic variants in CSS genes.

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U2 - 10.1016/j.gim.2022.04.010

DO - 10.1016/j.gim.2022.04.010

M3 - Journal article

C2 - 35579625

SN - 1098-3600

VL - 24

SP - 1753

EP - 1760

JO - Genetics in medicine : official journal of the American College of Medical Genetics

JF - Genetics in medicine : official journal of the American College of Medical Genetics

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

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