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Venturin M, Guarnieri P, Natacci F, et al. Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2 (J Med Genet 2003;41:35–41). We would like to offer our sincere apologies to the authors of this paper for a number of errors that were introduced regarding the incorrect use of the term “learning disability”. The instances of “learning disability” in the Key points box, and in Tables 1 and 2 should be “mental retardation”. These errors are much regretted and the corrected versions are shown here.
NF1 microdeletion syndrome is determined by haploinsufficiency of the NF1 gene and its flanking regions; NF1 microdeleted patients show a more severe phenotype than observed in classical NF1 patients.
The aim of this study was to verify the presence of specific clinical signs of NF1 microdeletion, by combining clinical and genetic evidence from 92 deleted patients, 14 newly characterised and 78 already published.
Statistical analysis, done by comparing the frequency of 10 clinical signs between NF1 microdeleted patients and the whole NF1 population, showed that the most common extra-NF1 clinical signs in microdeleted patients were mental retardation, cardiovascular malformations, and dysmorphisms.
Using bioinformatic tools, the deletion gene content of 44 genetically and clinically characterised patients was established. It is proposed that haploinsufficiency of OMG and/or CDK5R1 genes may be implicated in mental retardation. In relation to cardiovascular malformations, only JJAZ1 and CENTA2 can be considered as plausible candidate genes.
When present in an NF1 patient, dysmorphisms, cardiac anomalies, and mental retardation are signs indicating NF1 microdeletion.
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