Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features. (2nd December 2016)

• Record Type: Journal Article
• Authors: Miguet, Marguerite; Thevenon, Julien; Laugel, Vincent; Lefebvre, Mathilde; Bourchany, Aurélie; Rivière, Jean‐Baptiste; Duffourd, Yannis; Schaefer, Elise; Antal, Maria Cristina; Abida, Rosalie; Weingertner, Anne‐Sophie; Kremer, Valérie; Vabres, Pierre; Morice‐Picard, Fanny; Gonzales, Marie; Lipsker, Dan; Fraitag, Sylvie; Mandel, Jean‐Louis; Chelly, Jamel; Dollfus, Hélène; Faivre, Laurence; Thauvin‐Robinet, Christel; Calmels, Nadège; El Chehadeh, Salima
• Is Part Of: Prenatal diagnosis. Volume 36:Number 13(2016)
• Page Start: 1276
• Page End: 1279
• Publication Date: 2016-12-02
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4965
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract : What's Already Known About This Topic? Congenital ichthyosis is a condition that includes several distinct subtypes with significant genetic heterogeneity. Defects in the ERCC2 [ xeroderma pigmentosum (XP) complementation group D ] gene lead to one of several clinical diseases, including XP, trichothiodystrophy, cerebrooculofacioskeletal syndrome, XP/Cockayne syndrome, and XP/trichothiodystrophy. What Does This Study Add? This observation enlarges the phenotypic spectrum of ERCC2 ( XP complementation group D ) mutations to severe fetal cases and expands the molecular basis of congenital ichthyosis by reporting the prenatal expression of a very rare nucleotide excision repair‐related condition.