ONLINE MUTATION REPORT

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome

G Borck¹, R Redon², D Sanlaville¹, M Rio¹, M Prieur¹, S Lyonnet¹, M Vekemans¹, N P Carter², A Munnich¹, L Colleaux¹, V Cormier-Daire¹

¹ INSERM U393 and Département de Génétique Médicale, Hôpital Necker - Enfants Malades, Paris, France
² The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK

Correspondence to:
Correspondence to:
Valérie Cormier-Daire
INSERM U393, Hôpital Necker - Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France; cormier@necker.fr

Revised version received 21 September 2004

Accepted 23 September 2004

Abbreviations: CdLS, Cornelia de Lange syndrome; DAPI, 4',6'-diamidino-2-phenylindole

Keywords: array-CGH; Brachmann de Lange syndrome; isochromosome 18p; NIPBL; subtelomeric deletion

The first 150 words of the full text of this article appear below.

Cornelia de Lange syndrome (CdLS, also called Brachmann de Lange syndrome; OMIM 122470) is characterised by pre- and postnatal growth retardation, microcephaly, severe mental retardation with speech delay, feeding problems, major malformations including limb defects, and characteristic facial features.¹ Facial dysmorphism includes arched eyebrows, synophrys, short nose with anteverted nares, long philtrum, thin upper lip, and micrognathia. Although few autosomal dominant forms of CdLS have been described,^2,3 the large majority of cases are sporadic, and the scarcity of these familial forms has hampered the identification of the gene(s) underlying CdLS.⁴ Finally, rare cases of CdLS have been associated with balanced chromosomal translocations.^5–7

A gene responsible for CdLS has been recently identified by two groups. Indeed, Krantz et al performed genome-wide linkage exclusion mapping in 12 CdLS families and identified a locus on chromosome 5p13.⁸ This locus mapped close to both a translocation breakpoint and a small de novo deletion . . . [Full text of this article]

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