Noonan syndrome (NS) is characterized by distinctive facial features, heart defects, variable degrees of intellectual disability and other phenotypic manifestations. Although the mode of inheritance is typically dominant, recent studies indicate LZTR1 may be associated with both dominant and recessive forms. Seeking to describe the phenotypic characteristics of LZTR1‐associated NS, we searched for likely‐pathogenic variants using two approaches. Firstly, scrutiny of exomes from 9624 patients...
Tue Mar 12, 2019 10:28
Crisponi/Cold‐induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced by cold since early childhood) and a high neonatal lethality. CS/CISS is a genetically heterogeneous disorder caused by mutations in CRLF1 (CS/CISS1), in CLCF1 (CS/CISS2) and in KLHL7 (CS/CISS‐like). Here, a whole exome sequencing approach in individuals...
Tue Mar 12, 2019 10:36
Preimplantation genetic diagnosis (PGD) allows couples to test for a genetically affected embryo prior to implantation. Patient access to this ethically complex and expensive technology differs markedly across jurisdictions, with differences in private/public insurance coverage and variations in patient inclusion and diagnostic criteria. The objective of the study was to identify trade‐offs regarding PGD coverage decisions amongst genetic counsellors. To quantify stated preferences for PGD...
Mon Mar 11, 2019 15:25
Desbuquois dysplasia (DBQD) is an autosomal recessive heterogeneous disorder characterized by joint laxity and skeletal changes, including a distinctive monkey‐wrench appearance of the femora, advanced carpal ossification, and abnormal patterning of the preaxial digits. Two genes for DBQD (CANT1 encoding calcium‐activated nucleotidase‐1 and XYLT1 encoding xylosyltransferase‐1) have been reported. We propose a novel gene for neonatal short limb dysplasia resembling DBQD, based on the phenotype...
Thu Mar 07, 2019 20:19
Uncertainty is a challenging aspect of caring for children with Duchenne/Becker Muscular Dystrophies (DBMD). Although uncertainty is often perceived as a state to be avoided, hope may influence caregivers' perceptions of uncertainty as opportunity. The goal of this cross‐sectional quantitative study was to pilot a novel measure of state‐based hope, and test relationships among uncertainty, hope, spirituality, and coping efficacy in mothers of children with DBMD. Mothers (n=202) were recruited...
Thu Mar 07, 2019 20:08
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