Journal of Medical Genetics

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population

Background Preconception genetic screening is a key preventive strategy for identifying at-risk couples (ARCs) of inherited disorders and supporting informed reproductive decision-making. However, ...
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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).
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Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

1 Discipline of Genetics, Memorial University of Newfoundland, St John's, Newfoundland, Canada 2 Discipline of Pediatrics Memorial University of Newfoundland, St John's, Newfoundland, Canada 3 ...
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Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance

4 Department of Clinical Genetics, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK Correspondence to: Dr C M Hall, Department of Radiology, Great Ormond Street Hospital for Children ...
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Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders

4 Department of Pediatrics, Korea University College of Medicine, Seoul, Korea Correspondence to Dr Si Houn Hahn, Department of Pediatrics, University of Washington School of Medicine, Seattle ...
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Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

Purpose Patients with Fanconi anaemia (FA), a rare DNA repair genetic disease, exhibit chromosome fragility, bone marrow failure, malformations and cancer susceptibility. FA molecular diagnosis is ...
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Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome by long-read nanopore sequencing

Epithelial cell adhesion molecule (EPCAM)-associated Lynch syndrome arises from deletions at the 3′-end of EPCAM that disrupt transcriptional termination, generate read-through transcripts and cause ...
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Unmasking NF1 mosaicism: optical genome mapping identifies a novel t(15;17) translocation in melanocytes

Mosaic neurofibromatosis type 1 (NF1) poses a significant diagnostic challenge due to low-level mosaicism and the confinement of pathogenic variants to neuroectodermal lineages, frequently resulting ...
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Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation

2 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada 3 Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, ...
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Identification of Lynch syndrome among people newly diagnosed with endometrial cancer: a prospective audit

Background Since 2020, the UK National Institute for Health and Care Excellence (NICE) recommends screening for Lynch syndrome in all people newly diagnosed with endometrial cancer. Screening involves ...
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MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Correspondence to Dr Rachel H Giles, Department of Nephrology, F03.233, University Medical Center Utrecht, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands; r.giles{at}umcutrecht.nl Conclusions ...
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Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome

Epidemiological data such as birth incidence or population prevalence for rare conditions is difficult to obtain because of the large sample size required in order to obtain a valid estimate (ie based ...