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 learning disability, 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 learning disability. 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 learning disability are signs indicating NF1 microdeletion.

Mental retardation and cardiovascular malformations are significantly present in NF1-microdeleted patients and point to candidate genes in 17q11.2 / M. Venturin, P. Guarnieri, F. Natacci, M. Stabile, R. Tenconi, M. Clementi, C. Hernandez, P. Thompson, M. Upadhyaya, L. Larizza, P. Riva. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - 41:1(2004), pp. 35-41.

Mental retardation and cardiovascular malformations are significantly present in NF1-microdeleted patients and point to candidate genes in 17q11.2

M. Venturin
Primo
;
L. Larizza
Penultimo
;
P. Riva
Ultimo
2004

Abstract

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 learning disability, 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 learning disability. 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 learning disability are signs indicating NF1 microdeletion.
Settore BIO/13 - Biologia Applicata
Settore MED/03 - Genetica Medica
Article (author)
File in questo prodotto:
File Dimensione Formato  
05_Mental retardation and cardiovascular malformations.pdf

accesso aperto

Tipologia: Publisher's version/PDF
Dimensione 630.48 kB
Formato Adobe PDF
630.48 kB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/20117
Citazioni
  • ???jsp.display-item.citation.pmc??? 37
  • Scopus 95
  • ???jsp.display-item.citation.isi??? 83
social impact