Keratosis pilaris atrophicans (KPA) is a group of related skin disorders characterized by inflammatory keratotic skin-papules and hair loss on the scalp, eyebrows and eye-lashes. Facial scarring is a complication. A consanguineous family with four members affected by KPA was subject to extensive genetic investigation. The analysis revealed that affected individuals had inherited a unique […]
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A CASQ1 founder mutation in 3 Italian families with protein aggregate myopathy and hyperCKaemia (Contributed by Dr. Marina Mora)
Chronic elevation of serum creatine kinase (CK) is a common manifestation of neuromuscular disorders and may precede disease clinical expression, or remain asymptomatic. In 3 Italian families having high CK, mild myopathy, and calsequestrin-positive inclusions in muscle fibers, exome and Sanger sequencing and linkage analysis revealed a founder mutation in the CASQ1 gene. Immunocytochemistry, electron […]
Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism (Contributed by Dr. David Carmody)
Neonatal diabetes (diagnosed under 6 months of age) is usually caused by a disruption (mutation) in one of over twenty diabetes-related genes. One of the most common causes of neonatal diabetes is mutations in the insulin gene that result in production of a misshaped insulin protein that leads to death of the insulin producing beta […]
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid (Contributed by Dr. Christoph Freyer)
Coenzyme Q (CoQ10) is an essential mitochondrial electron carrier, redox cofactor and a potent antioxidant in the majority of cellular membranes. A range of metabolic diseases, as well as the ageing process and prolonged statin treatments have been associated with CoQ10 deficiency. Here the first case of a primary CoQ10 defect due to a mutation […]
Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families (Contributed by Dr. Diana Valverde Pérez)
Bardet Biedl syndrome (BBS) is a recessive rare disorder included in the ciliopathies disease family. The patient´s phenotype is very important in order to go deeper into the physiopathology of the disease. The clinical description of the patients could give us some clues about the pathways that are involved in the disease. Besides, the more […]
Combined Mineralocorticoid and Glucocorticoid deficiency is caused by a novel founder Nicotinamide Nucleotide Transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress (Contributed by Dr. Ariella Weinberg-Shukron)
The novel and ancestral NNT mutation, p.G200S, which was identified in two unrelated consanguineous families, expands the glucocorticoid deficiency phenotype of NNT mutations to include also mineralocorticoid deficiency; and thus present in early life with severe salt loss, low blood pressure and hypoglycemia. We provide the first patient-based evidence that NNT mutations induce oxidative stress […]
Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement (Contributed by Dr. Juwon Kim)
Craniosynostosis (CRS) is premature closure of cranial sutures, which is caused by either a gene mutation or environmental factors or both. Herein we found a gene mutation causing midline non-syndromic craniosynostosis in a 15-month-old boy. Conventional chromosome study revealed a complex paracentric inversion involving 2q14.3 and 2q34, and multicolor banding refined breakpoints to 2q14 and […]
Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus (Contributed by Janet Buchanan)
A brief conference report documents a gathering, sponsored by the University of Toronto’s McLaughlin Centre, of representatives of the Canadian medical genetics community. They were invited to consider issues concerning new genomic technologies in prenatal clinical practice, as a precursor to practice guidelines and recommendations for policy makers. Invited guests provided international experience and insight. […]
Streamlining review of research involving humans: Canadian models (Contributed by Ma’n H. Zawati)
Research ethics and data access review are two important milestones that rest on the path from clinical innovation to clinical care. Research ethics review ensures the protection of all research participants, while the data access review facilitates collaboration and data sharing among researchers worldwide. Both reviews, however, can pose significant practical challenges when studies involve […]
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type (Contributed by Dr. med. Malte Spielmann)
Mesomelic dysplasia Savarirayan type is a rare inheritable skeletal malformation with the main feature being severe shortness of the lower legs. We investigated the DNA of four distinct patients with this condition and found a small deletion of four genes in all three of them. The deletion is located on the short arm of chromosome […]