Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
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DOI：
10.1016/j.gim.2022.04.010
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发表时间：
2022-08
影响因子：
8.8
通讯作者：
Santen, Gijs W. E.
中科院分区：
文献类型：
--
作者：
van der Sluijs, Pleuntje J.;Joosten, Marieke;Alby, Caroline;Gilmore, Kelly;Dubourg, Christele;Fradin, Melanie;Wang, Tianyun;Kurtz-Nelson, Evangeline C.;Ahlers, Kaitlyn P.;Arts, Peer;Barnett, Christopher P.;Ashfaq, Myla;Baban, Anwar;van den Born, Myrthe;Borrie, Sarah;Busa, Tiffany;Byrne, Alicia;Carriero, Miriam;Cesario, Claudia;Chong, Karen;Dempsey, Jennifer C.;Cueto-Gonzalez, Anna Maria;Diderich, Karin E. M.;Doherty, Dan;Farholt, Stense;Gerkes, Erica H.;Gorokhova, Svetlana;Govaerts, Lutgarde C. P.;Gregersen, Pernille A.;Hickey, Scott E.;Lefebvre, Mathilde;Mari, Francesca;Martinovic, Jelena;Northrup, Hope;O'Leary, Melanie;Parbhoo, Kareesma;Patrier, Sophie;Popp, Bernt;Santos-Simarro, Fernando;Stoltenburg, Corinna;Thauvin-Robinet, Christel;Thompson, Elisabeth;Vulto-van Silfhout, Anneke T.;Zahir, Farah R.;Scott, Hamish S.;Earl, Rachel K.;Eichler, Evan E.;Vora, Neeta L.;Wilnai, Yael;Giordano, Jessica L.;Wapner, Ronald J.;Rosenfeld, Jill A.;Haak, Monique C.;Santen, Gijs W. E.
全基因组测序越来越多地在怀孕期间进行，以确定先天性异常的遗传原因。产前鉴定的变异的解释可能是具有挑战性的，并受到我们对产前表型的知识往往有限的阻碍。为了更好地描述Coffin-Siris综合征（CSS）的产前表型，我们收集了具有产前表型和CSS相关基因之一致病变异的患者的临床数据。通过广泛的网络调查收集临床数据。我们纳入了44例CSS相关基因变异和产前表型的患者;其中9例患者之前已有报道。在我们的队列中经常观察到的产前异常包括脑积水、胼胝体发育不全、左心发育不全综合征、永存左腔静脉、脑疝、肾发育不全和宫内生长受限。在ARID 1A变异患者中，出生后经常发现肛门异常（6/14，43%）。有趣的是，致病性ARID 1A变体在当前产前队列中（16/44，36%）比在出生后CSS队列中（5%-9%）更频繁地被鉴定。我们的数据揭示了CSS基因致病变异患者的产前表型。
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. Clinical data was collected through an extensive web-based survey. 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%). Our data shed new light on the prenatal phenotype of patients with pathogenic variants in CSS genes.
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DOI：
10.1002/ajmg.c.31414
发表时间：
2014-09-01
影响因子：
3.1
作者：
Santen, Gijs W. E.;Clayton-Smith, Jill
通讯作者：
Clayton-Smith, Jill
影响因子：
1.8
作者：
Sweeney, Nathaly M.;Nahas, Shareef A.;Kingsmore, Stephen F.
通讯作者：
Kingsmore, Stephen F.
影响因子：
168.9
作者：
Petrovski, Slave;Aggarwal, Vimla;Wapner, Ronald J.
通讯作者：
Wapner, Ronald J.
影响因子：
5.3
作者：
Petrikin, Josh E.;Cakici, Julie A.;Kingsmore, Stephen F.
通讯作者：
Kingsmore, Stephen F.
影响因子：
3.5
作者：
Wieczorek, Dagmar;Boegershausen, Nina;Wollnik, Bernd
通讯作者：
Wollnik, Bernd