Cornelia de Lange syndrome: Extending the physical and psychological phenotype

Oliver, Chris; Bedeschi, Maria Francesca; Blagowidow, Natalie; Carrico, Cheri S.; Cereda, Anna; FitzPatrick, David R.; Gervasini, Cristina; Griffith, Gemma M.; Kline, Antonie D.; Marchisio, Paola; Moss, Joanna; Ramos, Feliciano J.; Selicorni, Angelo; Tunnicliffe, P; Wierzba, Jolanta; Hennekam, Raoul C. M.

doi:10.1002/ajmg.a.33363

Cited by 20 publications

(15 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In addition, Pds5A deficiency results in developmental abnormalities similar to those present in Pds5B knockout mice [Zhang et al, 2009]. However, a recent study looking for mutations in PDS5A gene in 137 Italian CdLs patients, who do not have mutations in Scc2/NIPBL , SMC1 ␣ nor SMC3, was negative [Oliver et al, 2010]. These 2 syndromes have been recently described as cohesinopathies, and they were excellently reviewed in Liu and Krantz [2008].…”

Section: Defective Control Of Sister Chromatid Cohesion Aneuploidy mentioning

confidence: 99%

Sister Chromatid Cohesion Control and Aneuploidy

Barbero

2011

Cytogenet Genome Res

View full text Add to dashboard Cite

Apart from a personal tragedy, could Down syndrome, cancer and infertility possibly have something in common? Are there links between a syndrome with physical and mental problems, a tumor growing out of control and the incapability to reproduce? These questions can be answered if we look at the biological functions of a protein complex, named cohesin, which is the main protagonist in the regulation of sister chromatid cohesion during chromosome segregation in cell division. The establishment, maintenance and removal of sister chromatid cohesion is one of the most fascinating and dangerous processes in the life of a cell. Errors in the control of sister chromatid cohesion frequently lead to cell death or aneuploidy. Recent results showed that cohesins also have important functions in non-dividing cells, revealing new, unexplored roles for these proteins in human syndromes, currently known as cohesinopathies. In the last 10 years, we have improved our understanding of the molecular mechanisms of the cohesin and cohesin-interacting proteins regulating the different events of sister chromatid cohesion during cell division in mitosis and meiosis.

show abstract

Section: Defective Control Of Sister Chromatid Cohesion Aneuploidy mentioning

confidence: 99%

Sister Chromatid Cohesion Control and Aneuploidy

Barbero

2011

Cytogenet Genome Res

View full text Add to dashboard Cite

show abstract

“…The phenotype of patients with CdLS is very characteristic. The major clinical manifestations include a distinctive facial appearance (synophrys and high arched eyebrows in particular), prenatal and postnatal growth retardation, malformations of the extremities, especially the upper limbs, hirsutism, psychomotor retardation and a wide range of gastrointestinal problems (Gillis et al 2004; Kline et al 2007; Selicorni et al 2007; Oliver et al 2010). The severity of each of the aforesaid features differs significantly between the patients, which has prompted to define two CdLS subtypes: a mild form and the classical severe form (Kline et al 2007; Oliver et al 2010).…”

Section: Introductionmentioning

confidence: 99%

“…Moreover, in a few cases, a large genomic rearrangement involving the NIPBL gene has been detected, indicating even higher complexity of the genetic background of the syndrome. Observed genomic alterations were mostly deletions, encompassing one or more of NIPBL exons; however, also, a few pathogenic duplications were reported (Bhuiyan et al 2007; Ratajska et al 2010; Oliver et al 2010; Murray et al 2012; Pehlivan et al 2012, Russo et al 2012). …”

Section: Introductionmentioning

confidence: 99%

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

et al. 2012

Self Cite

View full text Add to dashboard Cite

Cornelia de Lange syndrome (CdLS) is a rare multi-system genetic disorder characterised by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects. The disease is caused by mutations in genes responsible for the formation and regulation of cohesin complex. About half of the cases result from mutations in the NIPBL gene coding delangin, a protein regulating the initialisation of cohesion. To date, approximately 250 point mutations have been identified in more than 300 CdLS patients worldwide. In the present study, conducted on a group of 64 unrelated Polish CdLS patients, 25 various NIPBL sequence variants, including 22 novel point mutations, were detected. Additionally, large genomic deletions on chromosome 5p13 encompassing the NIPBL gene locus were detected in two patients with the most severe CdLS phenotype. Taken together, 42 % of patients were found to have a deleterious alteration affecting the NIPBL gene, by and large private ones (89 %). The review of the types of mutations found so far in Polish patients, their frequency and correlation with the severity of the observed phenotype shows that Polish CdLS cases do not significantly differ from other populations.

show abstract

“…The c.3445C>T mutation has not been described before. However, the great majority of NIPBL mutations found so far are private mutations, while a small minority are recurrent mutations [5, 6, 8]. …”

Section: Discussionmentioning

confidence: 99%

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and aNIPBLMutation

Mende

Drake

Olomi

et al. 2012

Case Reports in Genetics

View full text Add to dashboard Cite

Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay. Gastrointestinal anomalies are common and an important cause of morbidity and mortality. We report on a newborn with a molecularly confirmed Cornelia de Lange syndrome who had an imperforate anus. This is the third report of Cornelia de Lange syndrome and imperforate anus.

show abstract

Cornelia de Lange syndrome: Extending the physical and psychological phenotype

Cited by 20 publications

References 16 publications

Sister Chromatid Cohesion Control and Aneuploidy

Sister Chromatid Cohesion Control and Aneuploidy

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and aNIPBLMutation

Contact Info

Product

Resources

About