[Clinical characterization and genetic analysis of a patient with Fahr disease due to a homozygous variant of JAM2 gene].

[Clinical manifestation and analysis of FBN1 gene variants in eight patients with Marfan syndrome].

Findings have enriched the mutational spectrum of the FBN1 gene among Chinese MFS patients and provided a basis for the genetic counseling and clinical management.

Genetic analysis of childhood-onset dystonia-28 caused by a variant (c.5076G>A) in the KMT2B gene

The mutational spectrum of KMT2B is expands the mutational spectrum of KMT2B and provides additional evidence to support the genetic diagnosis and counseling of patients with KMT2B-related dystonia.

[Clinical phenotype and genetic analysis of a child with Basel-Vanagaite-Smirin-Yosef syndrome due to variant of MED25 gene].

A novel MYH9 variant in a Chinese patient with MYH9 related disease

To investigate the novel genetic mutations and clinical characteristics in a patient with MYH9 related disease in order to enhance understanding of the disease. Clinical information was obtained, including medical history, pertinent laboratory tests, and family history. Whole exome sequencing (WES) was conducted on the patient and her parents. A 19-year-old female presented with a history of epistaxis and chronic thrombocytopenia. Her aunt and brother also have a history of thrombocytopenia. Sequencing analysis revealed mutations of MYH9 gene (c.5765 + 2T > G) and HBB gene (c.126_129del) in the patient, with the c.5765 + 2T > G mutation being previously unreported. The splice site mutation of MYH9 was predicted to be pathogenic by Mutation Taster and Polyphen software programs. As a result of identifying this splicing site mutation in this particular case, we have added c.5765 + 2T > G to the broad spectrum of potential MYH9 mutations.

Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism

This is the first report of concurrent CAIS and NF1, which enriches and expands the genotypic and phenotypic spectra of both disorders.

Clinical significance of SQSTM1 variants in ALS: report of p.Arg119Cys and literature review

It is shown that SQSTM1-associated ALS predominantly presents with limb onset, with a subset of patients exhibiting frontotemporal dementia or Paget’s disease, and its pathogenicity remains uncertain and requires further functional validation and pedigree confirmation.