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Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations

✍ Scribed by Guntram Borck; Mohamed Zarhrate; Jean-Paul Bonnefont; Arnold Munnich; Valérie Cormier-Daire; Laurence Colleaux

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
91 KB
Volume
28
Category
Article
ISSN
1059-7794

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✦ Synopsis

Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by facial dysmorphism, growth and mental retardation, microcephaly, and various malformations. Heterozygous mutations in the NIPBL gene have been detected in approximately 45% of affected individuals. Recently, a second CdLS gene, mapping to the X chromosome, has been identified: SMC1L1 (structural maintenance of chromosomes 1-like 1; or SMC1A). In order to estimate the incidence and refine the clinical presentation of Xlinked CdLS, we have screened a series of 11 CdLS boys carrying no NIPBL anomaly. We have identified two novel de novo SMC1L1 missense mutations (c.587G>A [p.Arg196His] and c.3254A>G [p.Tyr1085Cys]). Our results confirm that SMC1L1 mutations cause CdLS and support the view that SMC1L1 accounts for a significant fraction of boys with unexplained CdLS. Furthermore, we suggest that SMC1L1 mutations have milder effects than NIPBL mutations with respect to pre-and postnatal growth retardation and associated malformations. If confirmed, these data may have important implications for directing mutation screening in CdLS.

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## Abstract Cornelia de Lange syndrome (CdLS) manifests facial dysmorphic features, growth and cognitive impairment, and limb malformations. Mutations in three genes (__NIPBL__, __SMC1A__, and __SMC3__) of the cohesin complex and its regulators have been found in affected patients. Here, we present