Expanding the molecular and clinical spectrum of POLR3A-related charcot–marie–tooth disease

Variable phenotypic manifestations of two splice-site variants in DNAJB2: insights from two families and a systematic review.

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

It is demonstrated that early-onset MORC2-associated disorders segregate into two principal neurological phenotypes: a predominantly neuromuscular form and a central nervous system-predominant form.

Expanding the Phenotypic Spectrum of TXNDC15-Related Ciliopathies to Include Joubert Syndrome.

Biallelic loss-of-function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)-resident thioredoxin-domain protein required for ciliary transition zone integrity. Many ciliopathy genes show a spectrum of severity, producing a cl...

Reclassification of the GRIA3 splice-site variant in an X-linked family with intellectual disability and psychiatric symptoms

This variant is the first reported, enriching the database and providing additional evidence to support genetic counselling and prenatal diagnosis, and is the first reported to lead to exon 2 skipping of GRIA3.

Integrated genetic and functional analyses reveal the pathogenic effects of a novel STXBP3 variant in very-early-onset inflammatory bowel disease with immunodeficiency

Very early onset inflammatory bowel disease (VEOIBD) is frequently driven by monogenic defects. Pathogenic variants in the syntaxin-binding protein 3 ( STXBP3 ) gene have been implicated in VEOIBD; however, the relationship between specific variant types and clinical manifestations remains incompletely understo...

Clinical and genetic analysis of a family with 16p11.2 microduplication syndrome and variable multisystem manifestations.

This family provides a detailed clinical and genetic description of 16p11.2 microduplication carriers with prominent gastrointestinal motility and neuromuscular manifestations, thereby enriching the clinical characterization of this recurrent CNV and supporting substantial intrafamilial phenotypic heterogeneity.