News

jmg.bmj1d
A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14–21
Correspondence to: Dr Marci M Lesperance Division of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, F6905 Mott, Box 0241, 1500 East Medical Center Drive, Ann Arbor, MI ...
jmg.bmj2d
Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing
Background PALB2 is the most important contributor to familial breast cancer after BRCA1 and BRCA2 . Large genomic rearrangements (LGRs) in BRCA1 and BRCA2 are routinely assessed in clinical testing ...
jmg.bmj3d
Treatment switch in Fabry disease- a matter of dose?
Correspondence to Professor Eva Brand, Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology and Interdisciplinary Fabry Center Münster (IFAZ), University Hospital Münster, ...
jmg.bmj3d
Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders
4 Unitè de gènètique molèculaire, Groupe hospitalier Necker Enfants malades, Assistance Publique -Hôpitaux de Paris, Paris, France 5 Universitè Paris Descartes - Sorbonne Paris Citè, Institut Imagine, ...
jmg.bmj3d
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma
1 Génétique Oncologique EPHE, INSERM U753, Institut de cancérologie Gustave Roussy Villejuif; and Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre, France 2 Service de Génétique, Institut de ...
jmg.bmj3d
Gastrointestinal polyps in McCune Albright syndrome
1 Department of Endocrinology and Diabetes, Royal Children's Hospital, Melbourne, Australia 2 Department of Paediatrics, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, ...
jmg.bmj3d
STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome
Store-operated Ca2+ entry (SOCE) is a ubiquitous mechanism controlling Ca2+ homeostasis and relies on the reticular Ca2+ sensor STIM1 and the plasma membrane Ca2+ channel ORAI1. STIM1 and ORAI1 ...
jmg.bmj4d
Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan Background: PRF1 gene mutations are associated with familial haemophagocytic lymphohistiocytosis type 2 (FHL2).
jmg.bmj4d
Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension
Correspondence to: Dr William C Nichols Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, 1469 TCHRF, Cincinnati, OH 45229, USA; bill.nicholscchmc.org ...
jmg.bmj5d
Ancestry informative markers for fine-scale individual assignment to worldwide populations
Background and aims The analysis of large-scale genetic data from thousands of individuals has revealed the fact that subtle population genetic structure can be detected at levels that were previously ...
jmg.bmj5d
Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers.
Von Hippel-Lindau (VHL) disease is a dominantly inherited cancer syndrome characterised by the development of retinal, cerebellar, and spinal haemangioblastomas, renal cell carcinoma, and ...
jmg.bmj5d
RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity
We analysed rare variants in the non-coding RNU4-2 gene as a potential cause of neurodevelopmental disorder (NDD) and intellectual disability (ID) in a large cohort of individuals enriched for ...