New Founder Variant in the Kinesin Family Member 1 C (KIF1C) Gene Causes Cerebellar Ataxia and Tremor

Wilson disease associated with a novel variant in the ATP7B gene

A novel deletion variant in a Wilson disease patient harboring compound heterozygous variants in ATP7B is identified, expanding the known spectrum of pathogenic ATP7B variants.

A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular Characterization

The molecular and functional spectrum of SLC25A4-associated disease is expanded and may inform clinical practice, including genetic interventions such as preimplantation genetic diagnosis, premarital genetic screening, targeted genetic counseling, and cascade testing of at-risk family members.

Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32.

Identification of a Novel homozygous Splice-Site Deletion in KCTD7 Gene Associated with Progressive Myoclonic Epilepsy

The particular phenotype that was observed in the patient is comparable to the ones that are described in the KCTD7 related pathologies, combined with segregation analysis indicating both parents carried the variant heterogeneously present is a strong indication that the identified mutation consists of probably pathogenic mutation.

Identification of a novel and a recurrent CDC45 variant in a Chinese family with Meier-Gorlin syndrome 7 and a literature review

A Chinese patient presenting with classic hallmarks of MGORS7 alongside atypical clinical features, including hearing and visual impairments is reported, suggesting that growth hormone therapy may be beneficial for growth retardation in patients with MGORS7.

INPP5K-related muscular dystrophy caused by a novel synonymous splicing variant in a Chinese patient: a case report.