Publication Date:
2012-06-11
Description:
Background: Cornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized byfacial dysmorphism, growth and cognitive impairment, limb malformations and multipleorgan involvement. Mutations in NIPBL gene account for about 60% of patients with CdLS.This gene encodes a key regulator of the Cohesin complex, which controls sister chromatidsegregation during both mitosis and meiosis. Turner syndrome (TS) results from the partial orcomplete absence of one of the X chromosomes, usually associated with congenitallymphedema, short stature, and gonadal dysgenesis.Case presentationHere we report a four-year-old female with CdLS due to a frameshift mutation in the NIPBLgene (c.1445_1448delGAGA), who also had a tissue-specific mosaic 45,X/46,XX karyotype.The patient showed a severe form of CdLS with craniofacial dysmorphism, pre- and postnatalgrowth delay, cardiovascular abnormalities, hirsutism and severe psychomotorretardation with behavioural problems. She also presented with minor clinical featuresconsistent with TS, including peripheral lymphedema and webbed neck. The NIPBL mutationwas present in the two tissues analysed from different embryonic origins (peripheral bloodlymphocytes and oral mucosa epithelial cells). However, the percentage of cells withmonosomy X was low and variable in tissues. These findings indicate that, ontogenically, theNIPBL mutation may have appeared before the mosaic monosomy X. Conclusions: The coexistence in several patients of these two rare disorders raises the issue of whetherthere is indeed a cause-effect association. The detailed clinical descriptions indicatepredominant CdLS phenotypes, although additional TS manifestations may appear inadolescence.
Electronic ISSN:
1471-2350
Topics:
Biology
,
Medicine
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