Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation
Articolo
Data di Pubblicazione:
2007
Citazione:
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation / A. Selicorni, S. Russo, C. Gervasini, P. Castronovo, D. Milani, F. Cavalleri, A. Bentivegna, M. Masciadri, A. Domi, MT. Dovizia, C. Sforzini, E. Tarantino, L. Memo, G. Scarano, L. Larizza. - In: CLINICAL GENETICS. - ISSN 0009-9163. - 72:2(2007 Aug), pp. 98-108. [10.1111/j.1399-0004.2007.00832.x]
Abstract:
Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder
characterized by facial dysmorphisms, upper limb abnormalities, growth
and cognitive retardation. About half of all patients with CdLS carry
mutations in the NIPBL gene. The first Italian CdLS cohort involving
62 patients (including 4 related members) was screened for NIPBL
mutations after a clinical evaluation using a quantitative score that
integrates auxological, malformation and neurodevelopmental
parameters. The patients were classified as having an overall ‘severe’,
‘moderate’ or ‘mild’ phenotype. NIPBL screening showed 26 mutations
so classified: truncating (13), splice-site (8), missense (3), in-frame
deletion (1) and regulatory (1). The truncating mutations were most
frequently found in the patients with a high clinical score, whereas most
of the splice-site and all missense mutations clustered in the low-medium
score groups. The NIPBL-negative group included patients covering the
entire clinical spectrum. The prevalence of a severe phenotype in the
mutated group and a mild phenotype in the non-mutated group was
statistically significant. In terms of the isolated clinical signs, the
statistically significant differences between the mutation-positive and
mutation-negative individuals were pre- and post-natal growth deficits,
limb reduction, and delayed speech development. The proposed score
seems to be a valuable means of prioritizing the patients with CdLS to
undergo an NIPBL mutation test.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
clinical score ; Cornelia de
Lange syndrome ; genotype–phenotype
correlation ; NIPBL mutation
Elenco autori:
A. Selicorni, S. Russo, C. Gervasini, P. Castronovo, D. Milani, F. Cavalleri, A. Bentivegna, M. Masciadri, A. Domi, M.T. Dovizia, C. Sforzini, E. Tarantino, L. Memo, G. Scarano, L. Larizza
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