Discover the most talked about and latest scientific content & concepts.

Journal: Journal of medical genetics


Craniosynostosis, the premature fusion of one or more cranial sutures, occurs in ∼1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 genes have been associated with craniosynostosis, but only a minority of these are included in routine laboratory genetic testing.

Concepts: DNA, Gene, Genetics, Molecular biology, Human genome, Genomics, James D. Watson, Shotgun sequencing


Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine. Autosomal recessiveTK2mutations cause a spectrum of disease from infantile onset to adult onset manifesting primarily as myopathy.

Concepts: DNA, Adenosine triphosphate, RNA, Nucleoside, Pyrimidine, Nucleobase, Guanine, Thymine


Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates. Migalastat, an oral pharmacological chaperone being developed as an alternative to intravenous enzyme replacement therapy (ERT), stabilises specific mutant (amenable) forms of α-Gal to facilitate normal lysosomal trafficking.

Concepts: Medicine, Enzyme, Lysosomal storage disease, Therapy, Enzyme replacement therapy, Fabry disease


The 11p15 region is organised into two independent imprinted domains controlled by imprinting control regions, which carry opposite germline imprints. Dysregulation of 11p15 genomic imprinting results in two human fetal growth disorders (Silver-Russell syndrome (SRS, MIM 180860) and Beckwith-Wiedemann syndrome (BWS, MIM 130650)) with opposite growth phenotypes. The mouse orthologous region on distal chromosome 7 (dist7) is well conserved in its organisation and its regulation. Targeted mutagenesis in mice has provided highly valuable clues in terms of the mechanisms involved in the regulation of genomic imprinting of the 11p15/dist7 imprinted region. On the other hand, the recent identification of unexpected genetic defects in BWS and SRS patients also brought new insights into the mechanisms of 11p15 imprinting regulation. However, some mouse models and human genetic defects show contradictions in term of growth phenotypes and parental transmission. In this review, we extensively analyse those various mouse and human models and more particularly models with mutations affecting the two imprinting centres, in order to improve our understanding of regulation of 11p15/dist7 genomic imprinting.

Concepts: Gene, Genetics, Disease, Genetic disorder, Mutation, Mouse, Mice, H19


Autosomal recessive hereditary spastic paraplegias (AR-HSP) constitute a heterogeneous group of neurodegenerative diseases involving pyramidal tracts dysfunction. The genes responsible for many types of AR-HSPs remain unknown. We attempted to identify the gene responsible for AR-HSP with optic atrophy and neuropathy.

Concepts: DNA, Genetics, Allele, Evolution, Biology, Chromosome, Zygosity, Hereditary spastic paraplegia


Inherited CDKN2A mutation is a strong risk factor for cutaneous melanoma. Moreover, carriers have been found to have poor melanoma-specific survival. In this study, responses to novel immunotherapy agents in CDKN2A mutation carriers with metastatic melanoma were evaluated.


Retinitis pigmentosa (RP) is the most frequent inherited retinal disease, which shows a relatively high incidence of the autosomal-recessive form in Pakistan.

Concepts: Mutation, Retina, Retinitis pigmentosa, Point mutation, Missense mutation, Nonsense mutation


Opitz G/BBB syndrome is a heterogeneous disorder characterised by variable expression of midline defects including cleft lip and palate, hypertelorism, laryngealtracheoesophageal anomalies, congenital heart defects, and hypospadias. The X-linked form of the condition has been associated with mutations in the MID1 gene on Xp22. The autosomal dominant form has been linked to chromosome 22q11.2, although the causative gene has yet to be elucidated.

Concepts: DNA, Genetics, Cell nucleus, Bacteria, Evolution, Chromosome, Congenital heart defect, Congenital heart disease


Between 0.02% and 0.04% of articles are retracted. We aim to: (a) describe the reasons for retraction of genetics articles and the time elapsed between the publication of an article and that of the retraction notice because of research misconduct (ie, fabrication, falsification, plagiarism); and (b) compare all these variables between retracted medical genetics (MG) and non-medical genetics (NMG) articles.


Osteonecrosis of the femoral head is a debilitating disease that involves impaired blood supply to the femoral head and leads to femoral head collapse.

Concepts: Immune system, Cancer, Genetic disorder, Mutation, Blood, Avascular necrosis, Femur head