Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra-Cerebral Malformations.

Détails

Ressource 1Télécharger: 39428552.pdf (702.27 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY-NC 4.0
ID Serval
serval:BIB_9F3C8D6CE705
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra-Cerebral Malformations.
Périodique
Prenatal diagnosis
Auteur⸱e⸱s
Kratochwila C., Pomar L., Lebon S., Gengler C., Pavlidou D.C., Good J.M., Kumps C., Sichitiu J.
ISSN
1097-0223 (Electronic)
ISSN-L
0197-3851
Statut éditorial
Publié
Date de publication
11/2024
Peer-reviewed
Oui
Volume
44
Numéro
12
Pages
1526-1529
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Résumé
Warsaw Breakage Syndrome (WABS) is a rare autosomal recessive cohesinopathy characterized by growth retardation and congenital anomalies. This report aims to highlight the prenatal diagnosis of WABS through ultrasound findings and genetic testing. We report a case of prenatal diagnosis of WABS in a 24-week gestation fetus exhibiting microcephaly, delayed sulcation, short corpus callosum, cerebellar vermis hypoplasia and intrahepatic portal-systemic shunts. The couple had a history of a prior pregnancy termination due to severe intrauterine growth restriction and cerebral malformations. Whole exome sequencing revealed compound heterozygous pathogenic variants [NM_030653.4:c.1403dupT, p.(Ser469Valfs*32) and c.1672C>T, p.(Arg558*)] in the DDX11 gene, consistent with WABS. The same pathogenic variants were identified in the prior terminated fetus upon subsequent analysis. Postmortem examination of the proband confirmed the prenatal ultrasound findings. This case expands the understanding of the prenatal phenotypic spectrum of WABS by identifying specific cerebral and extracerebral anomalies associated with pathogenic variants in the DDX11 gene. Incorporating advanced genetic diagnostics like whole exome sequencing into prenatal care provides valuable information for genetic counseling and management of rare genetic disorders.
Mots-clé
Humans, Female, Pregnancy, DEAD-box RNA Helicases/genetics, Fetal Growth Retardation/genetics, Fetal Growth Retardation/diagnosis, Fetal Growth Retardation/diagnostic imaging, Adult, Ultrasonography, Prenatal, Exome Sequencing, Heterozygote, Microcephaly/genetics, Microcephaly/diagnosis, Microcephaly/diagnostic imaging, DNA Helicases/genetics, Abnormalities, Multiple/genetics, Abnormalities, Multiple/diagnosis, Abnormalities, Multiple/diagnostic imaging, Nervous System Malformations/genetics, Nervous System Malformations/diagnosis, Nervous System Malformations/diagnostic imaging, Prenatal Diagnosis/methods, DDX11, Warsaw Breakage Syndrome, cerebellar vermis hypoplasia, cohesinopathy, delayed sulcation, exome sequencing, intrahepatic portal‐systemic shunt, microcephaly, short corpus callosum
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/10/2024 8:26
Dernière modification de la notice
15/11/2024 20:35
Données d'usage