First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome

Huynh, Minh-Tuan; Tosca, Lucie; Petit, François; Martinovic, Jéléna; Proust, Alexis; Bouligand, Jérôme; Amiel, Jeanne; Azria, Élie; Parisot, Frédéric; Benoit, Virginie; Receveur, Aline; Drévillon, Loïc; Tachdjian, Gérard; Brisset, Sophie

doi:10.1016/j.ejmg.2018.01.009

Cited by 4 publications

(1 citation statement)

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“…Array comparative genomic hybridization analysis disclosed a de novo 19p13.12p13.11 deletion encompassing 56 RefSeq genes (34 out 56 are OMIM genes), including BRD4, which plays a role in branchial arches defects (Cao et al, 2016;Huynh et al, 2018;Kosaki et al, 2011) and was recently related to a Cornelia de Lange-like phenotype (Olley et al, 2018). In particular, missense mutations have been associated to a typical Cornelia de Lange phenotype because of the retained capacity of the mutated protein of binding nipbl, having a dominant negative effect.…”

Section: Discussionmentioning

confidence: 99%

Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome

Alesi

Dentici

Loddo

et al. 2018

Annals of Human Genetics

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Cornelia de Lange syndrome (CdLS) is a genetically and clinical heterogeneous condition characterized by congenital malformation, intellectual disability, and peculiar dysmorphic features. Recently, BRD4 (19p13.12) was proposed as a new critical gene associated with a mild CdLS because of a similar presentation of the patients carrying point mutations and of its involvement in the NIPBL pathway. Patients harboring a 19p interstitial deletion shared some physical features with BRD4 mutation carriers, which results in a more complex phenotype because of the involvement of several neighboring genes. We report a new 19p deletion in a patient clinically diagnosed as CdLS, partially overlapping with previously published cases with the aim to support the role of BRD4 haploinsufficiency in a CdL-like phenotype and to improve the delineation of 19p13.12p13.11 deletion as a new nonrecurrent gene contiguous syndrome, spanning GIPC1, NOTCH3, BRD4, AKAP8, AKAP8L, CASP14, and EPS15L1 genes. Previously described cases are reviewed, attempting to delineate a genotypephenotype correlation. K E Y W O R D S19p interstitial deletion, 19p13, BRD4, Cornelia de Lange 100

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