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EXCAVATOR: detecting copy number variants from whole-exome sequencing data
These analyses show that EXCAVATOR outperforms the other methods and is therefore a valuable tool for the investigation of CNVs in largescale projects, as well as in clinical research and diagnostics.
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients
The results show that the phenotypic abnormalities of apparently balanced de novo CCRs are mainly due to cryptic deletions and that spermatogenesis is more prone to generate multiple chaotic chromosome imbalances and reciprocal translocations than oogenesis.
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
Exome analysis revealed de novo intragenic variants in SET domain-containing 5 (SETD5) in two patients and CRISPR/Cas9 mutation modelling demonstrated nonsense-mediated decay of the resulting transcripts, pointing to a loss-of-function (LoF) and haploinsufficiency as the common disease-causing mechanism of intragenics SETD5 sequence variants and SETD 5-containing microdeletions.
ANKRD26-related thrombocytopenia and myeloid malignancies.
A study analyzing this series of patients suggested that ANKRD26 -RT -RT may be responsible for an autosomal-dominant form of thrombocytopenia.
Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations
Two novel cases carrying two previously undescribed mutations further support ASXL1 as cause of BOS and may contribute to a more precise definition of the phenotype caused by the disruption of this gene.
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy
A functional link between NOTCH3 deficiency and pathogenesis of vascular leukoencephalopathies is suggested and the heterozygous parents displayed similar but less dramatic trends in decrease in the expression of NotCH3 and its targets, as well as in vessel degeneration.
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia
A multicentric, retrospective study evaluating 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia found that hemorrhages requiring blood transfusion were more frequent in women with history of severe bleedings before pregnancy and with platelet count at delivery below 50 × 109/L.