[Autosomal dominant spastic paraplegias].

Objective: To estimate the proportion and spectrum of infrequent autosomal dominant spastic paraplegias in a group of families with DNA-confirmed diagnosis and to investigate their molecular and clinical characteristics.

Material And Methods: Ten families with 6 AD-SPG: SPG6 (=1), SPG8 (=2), SPG9A (=1), SPG12 (=1), SPG17 (=3), SPG31 (=2) were studied using clinical, genealogical, molecular-genetic (massive parallel sequencing, spastic paraplegia panel, whole-exome sequencing, multiplex ligation-dependent amplification, Sanger sequencing) and bioinformatic methods.

Results And Conclusion: Nine heterozygous mutations were detected in 6 genes, including the common mutation p.

[AP4-assocated hereditary spastic paraplegias].

Objective: In the course of studies of spastic paraplegias in Russian patients to detect AP4-associated forms, estimate their proportion in the total SPG group and analyze clinical and molecular characteristics.

Material And Methods: Five families of Russian ethnicity: four with SPG47, one with SPG51 (4 girls and a boy aged 2.5-9 years) were studied.

Identification of a Novel Variant in the Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy.

Objective: To report the first missense mutation in the gene causing distal hereditary motor neuropathy.

Methods: Genetic testing was carried out, including clinical exome sequencing for the proband and Sanger sequencing for the proband and his parents. We described the clinical and electrophysiological features found in the patient.

Clinical features of hearing loss caused by STRC gene deletions/mutations in Russian population.

Unlabelled: Congenital sensorineural hearing loss is related to mutations in numerous genes encoding the structures of the inner ear in majority of the cases. Mutations in GJB2 gene are the most frequently identified causes of congenital nonsyndromal hearing loss. GJB2 gene testing became a routine clinical tool.

[OTOF-related auditory neuropathy spectrum disorder].

Unlabelled: Otoferlin () gene mutations are the most common cause of hereditary ANSD according to investigations in several countries.

The Aim: Of this study was to estimate the prevalence of mutations in Russian children with ANSD and evaluate audiological and clinical features of -related ANSD.

Patients And Methods: 28 children with bilateral ANSDwere enrolled in the investigation.