The authors described three patients from the same family with intellectual disability and dysmorphic features. The three affected individuals carried a nonsense variant in KCNC1 gene.
The authors described a novel mucopolysaccharidosis-like disease caused by a specific mutation in the VPS33A gene in 13 patients. They identified several Yakut patients showing typical manifestations of mucopolysaccharidosis: coarse facial features, skeletal abnormalities, hepatosplenomegaly, respiratory problems, intellectual disability, and excess secretion of urinary glycosaminoglycans. However, these patients could not be diagnosed enzymatically as mucopolysaccharidosis. They showed extremely high levels of plasma heparan sulphate; 60 times the normal reference range and 6 times that of mucopolysaccharidosis patients. Additionally, most patients developed heart, kidney, and hematopoietic disorders, which are not typical symptoms for conventional mucopolysaccharidosis, leading to a fatal outcome between 1 and 2-years old.
The authors studied five patients from four kindreds, all of whom displayed intrauterine growth retardation, chronic neutropenia, and NK cell deficiency. Four of the five patients also had postnatal growth retardation. The authors discovered compound heterozygous rare mutations in GINS1 in the 5 patients.
The authors identified two unrelated consanguineous families with three children affected by the rare association of congenital nephrotic syndrome diagnosed in the first days of life, of hypogonadism, and of prenatally detected adrenal calcifications, associated with congenital adrenal insufficiency in one case. Using exome sequencing and targeted Sanger sequencing, two homozygous truncating mutations were identified in SGPL1.
The authors found five individuals with loss-of-function mutations in BGN. The clinical phenotype is characterised by early-onset aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia.
EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases.
The European Journal of Human Genetics has published three new Clinical Utility Gene Cards for:
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. One new GeneReviews has been published for:
Two updated GeneReviews have been published for: