Journal of Medical Genetics

UK consensus recommendations for onward testing for Lynch syndrome in patients with deficient mismatch repair (dMMR) non-colorectal/non-endometrial cancers

Background Tumour testing for microsatellite instability (MSI) or mismatch repair deficiency (dMMR) is used to screen for ...
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Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era

Correspondence to Dr Tuula Rinne, Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, Netherlands; tuula.rinne{at}radboudumc.nl Background This study evaluates 6 years of ...
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A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

10 School of Molecular and Biomedical Science, The University of Adelaide, Adelaide, Australia 11 Robinson Research Institute, The University of Adelaide, Adelaide, Australia Correspondence to Dr ...
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Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department

Background The utility of diagnostic genetic testing in cardiomyopathy has grown significantly, due to the discovery of novel genes and greater awareness among healthcare professionals. However, a ...
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Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED ...
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Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy

1 Molecular and Cytogenetics Unit, Department of Haematology and Genetics, South Eastern Area Laboratory Services, Prince of Wales Hospital, Randwick, Sydney, Australia Background: Recent ...
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The Smith-Lemli-Opitz syndrome

The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and ...
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An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumours (GIST)

Background About 85% of paediatric gastrointestinal stromal tumours (GISTs) and about 10–15% of adult GISTs do not harbour any mutations in the KIT and PDGFRA genes and are defined as KIT/PDGFRA wild ...
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Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome

Purpose Whereas most human genes encode multiple mRNA isoforms with distinct function, clinical workflows for assessing this heterogeneity are not readily available. This is a substantial shortcoming, ...
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Systematic assessment of atypical deletions reveals genotype–phenotype correlation in 22q11.2

1 Institute of Human Genetics, Friedrich-Alexander University, Erlangen-Nuremberg, Germany 2 Department of Pediatric Cardiology, Friedrich-Alexander University, Erlangen-Nuremberg, Germany 3 ...
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CRISPR-Cas9 for medical genetic screens: applications and future perspectives

Correspondence to Dr He Jing-Dong, Department of Clinical Oncology, Huai'an First People's Hospital, Nanjing Medical University, Huai'an, China; 13861596338@126.com Dr Xiao-Jie Lu, Department of ...
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A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 ...

Department of Internal Medicine I, St Josef-Hospital, Ruhr-University, Bochum, Germany Background: The understanding of genetic risk factors for chronic pancreatitis increased in the last decade with ...