The authors identified, by means of whole exome sequencing, a homozygous frameshift mutation in ARHGEF2 as a cause of intellectual disability, a midbrain-hindbrain malformation, and mild microcephaly in two children of a consanguineous pedigree of Kurdish-Turkish descent.
The authors reported a new syndrome in which midline-bridging neuronal commissures were widely disrupted, thus causing clinical manifestations of horizontal gaze palsy, scoliosis, and intellectual disability in three families. Affected individuals were found to possess biallelic loss-of-function mutations in the gene DCC.
The authors reported on four patients from two unrelated families who presented with severe intellectual disability and seizure disorder, accompanied by slightly elevated lactate level, 3-methylglutaconic aciduria and variable deficiency of mitochondrial complex V. Using exome analysis, they identified two homozygous missense mutations in the TIMM50 gene.
The authors reported two siblings with severe combined immune deficiencies and an atypical phenotype of osteopetrosis. A biallelic microdeletion encompassing TRAF6, RAG1 and RAG2 genes was identified.
The authors reported ABL1 germline variants co-segregating with an autosomal dominant disorder characterised by congenital heart disease, skeletal abnormalities, and failure to thrive. Four families were affected.
GeneReviews are expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardised format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. Two new GeneReviews have been published for:
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A research team produced an article on urea cycle disorders for the Orphanet Journal of Rare Diseases, specifically for a study aimed at establishing the epidemiological data, disease manifestation and short-term outcome. It was also a demonstration of cross-border surveillance in the European theatre as the patient cohort comprised of residents of Germany, Austria and Switzerland. The results indicated that cross-border surveillance is a very useful tool, and helped the researchers to clarify the cumulative incidence of urea cycle disorders and mortality predictors.