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Title: Cornelia de Lange syndrome with NIBPL mutation and mosaic Turner syndrome in the same individual
Author: Wierzba, Jolanta
Gil-Rodríguez, María Concepción
Polucha, Anna
Puisac, Beatriz
Arnedo, María
Teresa-Rodrigo, María Esperanza
Winnicka, Dorota
Hegardt, Fausto
Ramos, Feliciano J.
Limon, Janusz
Pié, Juan
Keywords: Síndrome de Turner
Malalties hereditàries
Malalties dels infants
Trastorns del creixement
Turner's syndrome
Genetic diseases
Children's diseases
Growth disorders
Issue Date: 7-Jun-2012
Publisher: BioMed Central
Abstract: Background: Cornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized by facial dysmorphism, growth and cognitive impairment, limb malformations and multiple organ 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 chromatid segregation during both mitosis and meiosis. Turner syndrome (TS) results from the partial or complete absence of one of the X chromosomes, usually associated with congenital lymphedema, short stature, and gonadal dysgenesis. Case presentation: Here we report a four-year-old female with CdLS due to a frameshift mutation in the NIPBL gene (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 post-natal growth delay, cardiovascular abnormalities, hirsutism and severe psychomotor retardation with behavioural problems. She also presented with minor clinical features consistent with TS, including peripheral lymphedema and webbed neck. The NIPBL mutation was present in the two tissues analysed from different embryonic origins (peripheral blood lymphocytes and oral mucosa epithelial cells). However, the percentage of cells with monosomy X was low and variable in tissues. These findings indicate that, ontogenically, the NIPBL mutation may have appeared before the mosaic monosomy X. Conclusions: The coexistence in several patients of these two rare disorders raises the issue of whether there is indeed a cause-effect association. The detailed clinical descriptions indicate predominant CdLS phenotype, although additional TS manifestations may appear in adolescence.
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It is part of: BMC Medical Genetics, 2012, vol. 33, p. 405-410
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ISSN: 1471-2350
Appears in Collections:Articles publicats en revistes (Bioquímica i Biomedicina Molecular)

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