Molecular and clinical examination of an Italian DEFECT 11 family

Abstract

The DEFECT 11 syndrome is a contiguous gene syndrome associated with deletions in the proximal part of chromosome 11p. In this study, we describe in an Italian family the co-existence of multiple exostoses (EXT) and enlarged parietal foramina (FPP), the two major symptoms of this syndrome, with abnormalities of the central nervous system. The latter may be a yet undescribed feature of DEFECT 11 syndrome. FISH and molecular analysis allowed us to identify a small deletion on 11p11-p12, further refining the localisation of the FPP gene involved in the DEFECT 11 syndrome.

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

“…P11pDS is associated with deletion of multiple genes, including the EXT2 gene [Stickens et al, 1996;Wuyts et al, 1996] causing EXT and the ALX4 gene responsible for foramina parietalia permagna (FPP) . Additional P11pDS symptoms such as mental retardation, craniofacial malformations, and micropenis may also be present, depending on the extent of the deletion, and it has been speculated that the broader phenotype involves additional genes that await definition [Bartsch et al, 1996;Wuyts et al, 1999].…”

DEFECT 11 syndrome associated with agenesis of the corpus callosum

“…8 Primer sequences for Genethon markers were obtained from the Genome Data Base (http://www.genethon.fr). …”

Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation

“…So far, 46 patients from 31 families affected by PSS have been described [Francke et al, 1977;Gustavson et al, 1984;Lorenz et al, 1990;Shaffer et al, 1993;McGaughran et al, 1995;Bartsch et al, 1996;Potocki and Shaffer, 1996;Wuyts et al, 1999Wuyts et al, , 2004Hall et al, 2001;Yamamoto et al, 2001;Chien et al, 2003;Brémond-Gignac et al, 2005;Chuang et al, 2005;Wakui et al, 2005;Romeike and Wuyts, 2007;Almind et al, 2009;Swarr et al, 2010]. The clinical phenotype of PSS is extremely heterogeneous, from normal development and intelligence to severe developmental delay and other abnormalities, including WAGR syndrome, due to the size of the deletion.…”