Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.

摘要: 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 cohort involving 62 (including 4 related members) was screened for after clinical evaluation using quantitative score that integrates auxological, malformation neurodevelopmental parameters. were classified as having an overall 'severe', 'moderate' or 'mild' phenotype. screening showed 26 so classified: truncating (13), splice-site (8), missense (3), in-frame deletion (1) regulatory (1). most frequently found high score, whereas clustered low-medium groups. NIPBL-negative group included covering entire spectrum. prevalence severe phenotype mutated mild non-mutated statistically significant. In terms isolated signs, significant differences between mutation-positive mutation-negative individuals pre- post-natal deficits, reduction, delayed speech development. proposed seems to be valuable means prioritizing undergo mutation test.