Background: CHARGE syndrome has an estimated prevalence of 1/10 000. Most cases are sporadic which led to hypotheses of a non-genetic aetiology. However, there was also evidence for a genetic cause ...

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 ...

The FFDDs: an overview. Focal facial dermal dysplasias (FFDDs) are a group of genetic/developmental disorders characterised by scar-like atrophic lesions in the bitemporal or preauricular facial ...

The first clinical descriptions of Silver–Russell syndrome (SRS) were published by Silver et al1 and Russell2 who independently described unrelated children characterised by low birth weight and with ...

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 ...

Background X-linked ichthyosis (XLI) is an uncommon dermatological condition resulting from a deficiency of the enzyme steroid sulfatase (STS), often caused by X-linked deletions spanning STS . Some ...

Over the past three decades, extensive genetic, physical, transcript, and sequence maps have assisted in the mapping of over 30 genetic diseases and in the identification of over 550 genes on human ...

T-type channels are low-voltage-activated calcium channels that contribute to a variety of cellular and physiological functions, including neuronal excitability, hormone and neurotransmitter release ...

Background FGF8-FGFR1 signalling is involved in multiple biological processes, while impairment of this signalling is one of the main reasons for isolated hypogonadotropic hypogonadism (IHH). Recently ...

Familial hypercholesterolaemia (FH) is a devastating genetic disease that leads to extremely high cholesterol levels and severe cardiovascular disease, mainly caused by mutations in any of the main ...

Background NICE Guideline NG241: identifying and managing familial and genetic risk of ovarian cancer (OC) was published by the National Institute for Health and Care Excellence (NICE) in March 2024.