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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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Axenfeld-Rieger syndrome: more than meets the eye
Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with ...
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Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes
1 National Human Genome Research Institute, National Institutes of Health, Bldg 49, Room 4B75, 49 Convent Drive, Bethesda, MD 20892-4472, USA 2 Department of Medical Genetics, Children’s National ...
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Redefinition of familial intestinal gastric cancer: clinical and genetic perspectives
Background Familial intestinal gastric cancer (FIGC) remains genetically unexplained and without testing/clinical criteria. Herein, we characterised the age of onset and disease spectrum of 50 FIGC ...
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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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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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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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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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Genotype–phenotype correlations in Peutz-Jeghers syndrome
5 Institute of Gastroenterology, Sheba Medical Center, Tel-Hashomer, 52621, Israel 6 The Susanne Levy Gerner Oncogenetics Unit, Sheba Medical Center, Tel-Hashomer, 52621, Israel Correspondence to: C ...
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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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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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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 ...