[Phelan-McDermid syndrome associated with a novel heterozygous mutation in the SHANK3 gene]. / Sindrom Felan­MakDermid, assotsiirovannyi s novoi geterozigotnoi mutatsiei v gene SHANK3.

Phelan-McDermid syndrome (PMS) is a hereditary disorder associated with microdeletions of chromosome 22q13 or point mutations in SHANK3, characterized by mental and speech delays, intellectual disability, epilepsy and autism spectrum disorder. We describe a case PMS associated with a heterozygous mutation c.2486delC (p.Pro829fs) in SHANK3. The diagnostic pathway of a female patient with PMS took more than 7 years; the reason for treatment was the onset of epileptic seizures and impaired speech development. The existence of different types of rearrangements and genomic variations can explain the high clinical variability observed in individuals with PMS. Only molecular diagnosis can accurately diagnose individuals with PMS for follow-up and medical genetic counselling of families.

[Joubert syndrome type 5 caused by a new compound heterozygous mutation in CEP290]. / Sindrom Zhubera 5-go tipa, assotsiirovannyi s novoi kompaund-geterozigotnoi mutatsiei v gene CEP290.

Joubert syndrome (JS) is a recessive neurodegenerative disease characterized by hypotonia, ataxia, psychomotor delay, oculomotor and visual impairments. JS shows clinically variability and genetic heterogeneity. In this article, we report a case of a 14-year-old female patient with JS 5 type associated with a new compound-heterozygous mutation c.2991+1655A>G + c.6604delA (p.Ile2202fs) in CEP290. Clinical and genetic data of JS 5 type can be useful in the diagnosis of disease.

[The coincidence of benign non-familial infantile seizures type 2 with osteogenesis imperfecta type 1]. / Sochetanie dobrokachestvennykh nesemeinykh infantil'nykh pristupov 2-go tipa s nesovershennym osteogenezom 1-go tipa.

A clinical case of a patient with neonatal epilepsy at the age of 5 months, with impaired bone formation, early osteoporosis and frequent limb fractures is described. Panel sequencing confirmed by Sanger sequencing revealed two independent hereditary diseases - osteogenesis imperfect type 1, associated with a mutation in the COL1A1 gene (c.2010delT) and benign non-familial infantile seizures associated with a mutation in the PRRT2 gene (c.649dupC). A unique clinical case of a combination of these diseases is presented.

[Spinocerebellar ataxia 17: full phenotype in a 42 CAG/CAA-repeats carrier]. / Spinotserebellyarnaya ataksiya 17-go tipa: polnyi fenotip u nositelya 42 CAG/CAA-povtorov.

Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxia with a wide clinical spectrum, which can imitate other motor disorders. The article presents an observation of a 51-year-old woman with slowly progressive coordination disorders and changes in handwriting manifested at the age of 39 years. Neurologic examination reveals severe cerebellar ataxia, choreiform hyperkinesis, polyneuropathy, cognitive and mental disorders; magnetic resonance imaging (MRI) of the brain shows moderate diffuse atrophy of the cerebral cortex, severe atrophy of the cerebellum hemispheres. Molecular analysis of the TBP demonstrates an allele with 42 CAG/CAG-repeats suggesting that an allele of this size could be an allele associated with the full clinical spectrum of SCA17.

Interação entre células do cumulus e atividade da proteína quinase C em diferentes fases da maturação nuclear de oócitos bovinos / Interaction between cumulus cells and the activity of protein kinase C at different stages of bovine oocyte nuclear maturation

Verificou-se a influência da proteína quinase C (PK-C) no reinício e na progressão da meiose em oócitos bovinos, determinando se as células do cumulus são mediadoras da PK-C na regulação da maturação dos oócitos. Complexos cumulus-oócitos (CCO) e oócitos desnudos (OD), distribuídos aleatoriamente em seis tratamentos (T) com base na presença de um ativador da PK-C (PMA) (T1 e T2), de um forbol éster incapaz de ativar a PK-C (4alfa-PDD-controle) (T3 e T4) ou de apenas o meio básico (TCM-199-controle) (T5 e T6), foram cultivados por 7, 9, 12, 18 e 22 horas. A percentagem de rompimento da vesícula germinativa no grupo cultivado com PMA foi maior do que nos dois grupos controle, com e sem células do cumulus. O cultivo de CCO e OD por 12 e 18 horas demonstrou que a PK-C influencia a progressão para os estádios de metáfase I (MI) e metáfase II (MII) de maneira dependente das células do cumulus. Nos períodos de 9 e 22 horas, não foi possível observar diferença entre os grupos quanto aos diferentes estádios de maturação. A ativação da PK-C acelera o reinício da meiose independentemente das células somáticas e acelera a progressão até os estádios de MI e MII na dependência das células do cumulus.

[Artificial ribonucleases I. Targeted RNA cleavage by 5'-peptidyloligodeoxyribonucleotides containing arginine and leucine residues]. / Iskustvennye ribonukleazy I. Napravlennoe rasshcheplenie RNK 5'-peptidiloligodezoksiribonukleotidami, soderzhashchimi ostatkami arginina i le'itsina.

The interaction of DNA and RNA with oligodeoxyribonucleotides and their 3'-terminal N-(2-hydroxyethyl)phenazinium derivatives carrying peptide residues with alternating basic and hydrophobic amino acids at the 5'-terminal phosphate was studied. It was found that the introduction of peptide residues (LeuArg)n-Gly-NH2 (n = 2-4) into an oligodeoxyribonucleotide enhances the latter's hybridization ability: each additional LeuArg pair increases the Tm value of the (5')pd(CACACACAAAAAAC).(3')d(TGTGTGTG)p(-LeuArg)n-Gly- NH2 complex by 1.3 degrees C. The reagents did not destort the DNA structure and were capable of site-specific hydrolysis of the phosphodiester bonds of RNA. It was shown that the location of the cleavage sites and the efficacy of the RNA hydrolysis at n = 2 and 4 and at n = 3 strongly differ. The maximum hydrolysis (80%) of tetradecaribonucleotide (5')p(GAUUGAAAAUCCCC) was achieved using peptidyloligodeoxyribonucleotide (3')d(CTAACT)p(LeuArg)4GlyNH2. The possibility of directed cleavage of phosphodiester bonds in tRNAPhe by peptidyloligodeoxyribonucleotides (3')d(CTAACT)p(LeuArg)nGlyNH2 (n = 3 and 4) was shown.