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Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain
Background Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors. PRDM12 ...
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Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, IFREM, Institut Necker, Hôpital des Enfants-Malades, Paris, France. Spinal muscular atrophy (SMA) is characterised by ...
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De novo mtDNA point mutations are common and have a low recurrence risk
4 Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK 5 Research School for Cardiovascular Diseases in ...
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Mutation in cytochrome b gene of mitochondrial DNA in a family with fibromyalgia is associated with NLRP3-inflammasome activation
9 Unidad de Reproducción Humana y Cirugía Endoscópica, Instituto para el Estudio de la Biología de la Reproducción Humana (INEBIR), Sevilla, Spain Correspondence to Dr Mario D Cordero, IBiS Institute ...
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Investigating the genetic susceptibility to exertional heat illness
Background We aimed to identify rare (minor allele frequency ≤1%), potentially pathogenic non-synonymous variants in a well-characterised cohort with a clinical history of exertional heat illness (EHI ...
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Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human
Background Assisted reproductive technologies (ART) such as in vitro fertilisation (IVF) and intracytoplasmic sperm injection (ICSI) are believed to destabilise genomic imprints. An increased ...
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Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males
OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN The first large cross sectional study of a ...
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Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency
2 College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China Background A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening ...
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Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy
Background Increasing evidence indicates a robust correlation between epilepsy and variants of the Kv7.2 (KCNQ2) channel, which is critically involved in directing M-currents and regulating neuronal ...
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Under-recognised neurocognitive deficits in adults and adolescents with tuberous sclerosis complex
Background Tuberous sclerosis complex (TSC) is a genetic disease characterised by the growth of benign tumours. The Tuberous sclerosis Associated Neuropsychiatric Disorders (TAND) Checklist is used to ...
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A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents
Center of Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria Dr K Szuhai, Department of Molecular Cell Biology, zone S-1-P, Leiden University Medical Center, PO Box 9600, 2300 RC ...
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Germline E-cadherin mutations in familial lobular breast cancer
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada Results: A novel germline CDH1 truncating mutation in the extracellular portion of ...