Background Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a heterogeneous group of myopathies characterised by progressive muscle weakness involving proximal muscles of the shoulder and ...

Background Familial hypercholesterolaemia (OMIM 143890) is most frequently caused by variations in the low-density lipoprotein receptor ( LDLR ) gene. Predicting whether novel variants are pathogenic ...

Fragile X syndrome, the main cause of inherited mental retardation, is caused by transcriptional silencing of the fragile X mental retardation gene, FMR1 . Absence of the associated protein FMRP leads ...

Background SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in ...

Since the identification and cloning of BRCA1 in 1994,1 and shortly thereafter of BRCA2 ,2 genetic tests of germline DNA to identify pathogenic variants in genes linked to hereditary breast and ...

Silver–Russell syndrome (SRS MIM180860) is a disorder characterised by intrauterine and/or postnatal growth restriction and typical facies. However, the clinical picture is extremely diverse due to ...

CRISPR-Cas9 ( c lustered r egularly i nterspaced s hort p alindromic r epeats-CRISPR associated nuclease 9) systems have emerged as versatile and convenient (epi)genome editing tools and have become ...

Background Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic tumour syndrome with poor prognosis. The clinical manifestation was found to be more serious in affected offspring of ...

Background Oral clefts, that is, clefts of the lip and/or cleft palate (CL/P), are the most common craniofacial birth defects with an approximate incidence of ~1/700. To date, physicians stratify ...

Background The interpretation of germline TP53 variants is critical to ensure appropriate medical management of patients with cancer and follow-up of variant carriers. This interpretation remains ...

Background Heterozygous disruptions of FOXP2 were the first identified molecular cause for severe speech disorder: childhood apraxia of speech (CAS), and yet few cases have been reported, limiting ...

Our understanding of the pathophysiology of autoinflammatory diseases has dramatically increased due to the unravelling of defective signalling pathways. The discovery of the FMF gene in 1997 shed ...