Prenatal/neonatal pathology findings in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL
Articolo
Data di Pubblicazione:
2007
Citazione:
Prenatal/neonatal pathology findings in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL / F. Lalatta, S. Russo, B. Gentilin, L. Spaccini, C. Boschetto, F. Cavalleri, M. Masciadri, C. Gervasini, A. Bentivegna, P. Castronovo, L. Larizza. - In: GENETICS IN MEDICINE. - ISSN 1098-3600. - 9:3(2007 Mar), pp. 188-194. [10.1097/GIM.0b013e31803183dd]
Abstract:
Purpose: The study reviews prenatal findings in two cases with a suspected diagnosis of Cornelia de Lange
Syndrome, a multisystem disorder characterized by somatic defects and mental retardation, that were later
confirmed by postmortem examination and molecular testing. Although the correlation between the Cornelia de
Lange Syndrome genotype and phenotype is still unclear, preliminary data indicate several severe phenotypic
features that are likely to be detected prenatally in NIPBL-mutated patients. Methods: We report on two prenatal/
neonatal cases with unusual pathologic findings indicating Cornelia de Lange Syndrome. The first, with suspected
Cornelia de Lange Syndrome after a set of typical dysmorphisms was noted by prenatal ultrasound, was confirmed
by a physical examination after termination of the pregnancy. The second was diagnosed neonatally on the basis
of typical clinical signs. Medical complications led to death within the first month of life. Results: Molecular
analysis of NIPBL, the gene that codes for delangin (a component of the cohesin complex), performed postnatally
detected two de novo mutations: a missense change (P2056L) in a highly conserved residue and a nonsense
alteration (S2490 replaced by a stop codon). Conclusion: We suggest that early diagnosis of Cornelia de Lange
Syndrome would be made much easier by the assemblage of a set of prenatal diagnostic features and criteria in
Cornelia de Lange Syndrome cases that have been confirmed by direct physical and molecular examinations. We
also suggest that Cornelia de Lange Syndrome genotype–phenotype correlations need to be extended to prenatal
cases.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Cornelia de Lange ; Rare disease ; Prenatal diagnosis ; Fetal dysmorphisms ; NIPBL mutations
Elenco autori:
F. Lalatta, S. Russo, B. Gentilin, L. Spaccini, C. Boschetto, F. Cavalleri, M. Masciadri, C. Gervasini, A. Bentivegna, P. Castronovo, L. Larizza
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