Developmental data on individuals with the Brachmann‐de Lange syndrome

Kline, Antonie D.; Stanley, Christian; Belevich, Jacqueline; Brodsky, Karen; Barr, Marie; Jackson, Laird G.

doi:10.1002/ajmg.1320470724

Cited by 61 publications

(68 citation statements)

References 11 publications

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“…1,2 The mental retardation in CdLS is often severe, with a mean IQ of 53. 3 Despite some of the characteristic features, CdLS has a variable phenotype with a broad range from severely to very mildly affected patients.…”

Section: Cdlsmentioning

confidence: 99%

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

et al. 2011

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Cornelia de Lange syndrome (CdLS; or Brachmann-de Lange syndrome) is a dominantly inherited congenital malformation disorder with features that include characteristic facies, cognitive delays, growth retardation and limb anomalies. Mutations in nearly 60% of CdLS patients have been identified in NIPBL, which encodes a regulator of the sister chromatid cohesion complex. NIPBL, also known as delangin, is a homolog of yeast and amphibian Scc2 and C. elegans PQN-85. Although the exact mechanism of NIPBL function in sister chromatid cohesion is unclear, in vivo yeast and C. elegans experiments and in vitro vertebrate cell experiments have demonstrated that NIPBL/Scc2 functionally interacts with the MAU2/Scc4 protein to initiate loading of cohesin onto chromatin. To test the significance of this model in the clinical setting of CdLS, we fine-mapped the NIPBL-MAU2 interaction domain and tested the functional significance of missense mutations and variants in NIPBL and MAU2 identified in these minimal domains in a cohort of patients with CdLS. We demonstrate that specific novel mutations at the N-terminus of the MAU2-interacting domain of NIPBL result in markedly reduced MAU2 binding, although we appreciate no consistent clinical difference in the small group of patients with these mutations. These data suggest that factors in addition to MAU2 are essential in determining the clinical features and severity of CdLS.

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Section: Cdlsmentioning

confidence: 99%

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

et al. 2011

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“…Distinctive facial characteristics, considered important diagnostic features, include confluent, arch-shaped eyebrows, thin down-turned lips, long eyelashes, a low hair line, low set ears and a long philtrum (Ireland et al, 1993;Jackson et al, 1993;Kline et al, 1993;Kline et al, 2007a). …”

Section: Physical Characteristicsmentioning

confidence: 99%

Cornelia De Lange, Cri Du Chat, and Rubinstein-Taybi Syndromes

Oliver

Arron²,

Powis³

et al. 2011

The SAGE Handbook of Developmental Disorders

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“…Growth retardation is an almost universal finding in CdLS and typically has a prenatal onset. Mental retardation in CdLS is often severe, with a mean IQ of 53 (range 30-86) [3]. Many patients also demonstrate autistic and self-injurious behavior [4].…”

Section: Introductionmentioning

confidence: 99%