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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
TLDR
It is reported here that mutations in SMC1L1 (also known asSMC1), which encodes a different subunit of the cohesin complex, are responsible for CdLS in three male members of an affected family and in one sporadic case.
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome
TLDR
The hypotheses that trans-acting factors affect the somatic maintenance of imprinting at multiple maternally methylated loci are supported and that the clinical presentation of these complex cases may reflect the loci and tissues affected with the epigenetic abnormalities.
Diagnosis and management of Silver–Russell syndrome: first international consensus statement
This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver–Russell syndrome (SRS), an imprinting disorder that causes prenatal
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
TLDR
An international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of Beckwith–Wiedemann syndrome, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood.
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation
TLDR
The proposed score seems to be a valuable means of prioritizing the patients with CdLS to undergo an NIPBL mutation test, and the statistically significant differences between the mutation‐positive and mutation‐negative individuals were pre‐ and post‐natal growth deficits, limb reduction, and delayed speech development.
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.
TLDR
Evidence is presented that some mothers of AS patients with deletions of the 15q11-q13 region have a heterozygous inversion involving the region that is deleted in the affected offspring, and this region is inverted in the mouse draft genome sequence with respect to the human draft sequence.
Epilepsy in Rett syndrome: Clinical and genetic features
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes
TLDR
The mutational repertoire of the CDKL5 gene is shown to be expanded by testing patients with phenotypical overlap to Rett syndrome and applying multiplex ligation-dependent probe amplification, reinforcing the view that a more severe phenotype is due more to an altered protein than haploinsufficiency.
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