Rare Variants of the Gene Detected during Neonatal Screening.

During the expanded neonatal screening program conducted in 2023, we analyzed samples obtained from 1,227,130 out of 1,256,187 newborns in the Russian Federation in order to detect 5q spinal muscular atrophy (5q SMA). Within the 253-sample risk group formed based on the results of the first screening stage, 5 samples showed a discrepancy between the examination results obtained via various screening methods and quantitative MLPA (used as reference). The discrepancy between the results was caused by the presence of either a c.

Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.

The gene encodes a homeobox transcription factor pivotal in the development of rhombomere 4. Biallelic pathogenic variants in this gene are associated with congenital facial paresis type 3 (HCFP3). Only seven single nucleotide variants have been reported in the literature to date.

Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation.

5q spinal muscular atrophy (5q SMA) is one of the most common autosomal recessive disorders in the Russian Federation. The first medication to treat 5q SMA was registered in the Russian Federation for treatment of all 5q SMA types in 2019, and the last of the three currently available in December 2021. We launched the pilot newborn screening (NBS) program for 5q SMA in Moscow, the Russian Federation, starting in 2019.

X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the Gene.

X-linked centronuclear myopathy is caused by pathogenic variants in the gene, which encodes myotubularin, a phosphatidylinositol 3-phosphate (PI3P) phosphatase. This form of congenital myopathy predominantly affects males. This study presents a case of X-linked myotubular myopathy in a female carrier of a pathogenic c.

Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia-Alania, Case Series Report.

North Caucasus has always been a residence of a lot of different authentic ethnic groups speaking different languages and still living their traditional lifestyle. The diversity appeared to be reflected in the accumulation of different mutations causing common inherited disorders. X-linked ichthyosis represents the second most common form of genodermatoses after ichthyosis vulgaris.

Specificities of the DMD Gene Mutation Spectrum in Russian Patients.

Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common form of muscular dystrophy, accounting for over 50% of all cases. In this regard, in Russia we carry out a program of selective screening for DMD/BMD, which mainly involves male patients. The main inclusion criteria are an increase in the level of creatine phosphokinase (>2000 U/L) or an established clinical diagnosis.

Genetic and Clinical Spectrum of GNE Myopathy in Russia.

GNE myopathy (GNEM) is a rare hereditary disease, but at the same time, it is the most common distal myopathy in several countries due to a founder effect of some pathogenic variants in the gene. We collected the largest cohort of patients with GNEM from Russia and analyzed their mutational spectrum and clinical data. In our cohort, 10 novel variants were found, including 2 frameshift variants and 2 large deletions.

[Diversity of CACNA1A-related disorders].

Four cases of autosomal dominant CNS disorders related to mutations and detected by massive parallel sequencing are reported: a non-familial case of episodic ataxia type 2 (EA2) with the previously reported mutation c.269_270insA (p.Tyr90Ter) in a 35-year-old man; familial hemiplegic migraine type 1 (FHM1) in a girl aged 3 years 10 months and her mother aged 38 yrs with a novel mutation 1829C>T (p.

[Molecular genetic diagnosis of Stargardt disease].

Aim: To comparatively evaluate the efficacy of genetic screening in patients with Stargardt disease (SD) by using an express panel of 5 most common ABCA4 mutations and performing massive parallel sequencing of all coding regions of the ABCA4, ELOVL4, PROM1, and CNGB3 genes.

Material And Methods: MLPA analysis for 5 ABCA4 mutations, namely p.G863A, p.

[Modern opportunities and prospects for studying pathogenesis, diagnosing and treating hereditary optic neuropathies].

Objective: To evaluate modern opportunities and prospects for studying pathogenesis and improving diagnostics and treatment of hereditary optic neuropathies (HON).

Material And Methods: The article presents summarized data on the pathogenesis, diagnostics, and treatment of HON based on modern methods of assessment.

Results: The results of long-term worldwide studies and those performed in the Research Institute of Eye Diseases in collaboration with several other institutions are presented.

[Stargardt's disease and abiotrophy of Franceschetti (fundus flavimaculatus): pathogenetic, clinical, and molecular genetic characteristics].

The article presents a review of literature on Stargardt's disease and abiotrophy of Franceschetti. Etiopathogenetic, clinical and molecular genetic characteristics are covered. Clinical and genetic classifications of the diseases are provided.

[Morphological changes in retina and optic nerve head in patients with Leber's hereditary optic neuropathy].

Objective: To study morphological changes of the macula and the peripapillary nerve fiber layer in patients with Leber's hereditary optic neuropathy (LHON).

Material And Methods: A total of 21 patients (40 eyes) with LHON and 17 healthy volunteers (33 eyes) of the control group were assessed. Optical coherence tomography (OCT) on RTVue-100 for retina and optic nerve head assessment was performed in all cases.

[Hereditary optic neuropathies: clinical and molecular genetic characteristics].

The article presents a review of literature on hereditary optic neuropathies: Leber mitochondrial hereditary optic neuropathy, autosomal dominant and autosomal recessive optic neuropathies, X-linked optic atrophy. Clinical and molecular genetic characteristics are covered. Isolated optic neuropathies, as well as hereditary optic disorders, being a part of a complex syndromic disease are described.

[Clinical and molecular genetic analysis of hereditary optic neuropathies].

DNA samples of 50 patients with optic neuropathy (ON) associated with congenital cataract were studied to find 3 major mt-DNA mutations (m.11778G>A, m.3460G>A, m.

[Molecular analysis of the Y chromosome in XX sex-reversed patients].

Molecular genetic analysis was performed for 26 phenotypically male patients lacking the Y chromosome in the karyotype. The sex-determining region Y (SRY) gene was found in 77% of the patients. PCR analysis of Y-specific loci in the 17 SRY-positive patients revealed Yp fragments varying in size in 16 cases and cryptic mosaicism (or chimerism) for the Y chromosome in one case.

Laminopathies in Russian families.

Mutations in LMNA gene produce a wide spectrum of disorders called laminopathies. In this article, the first cases of laminopathies from Russia are reported. In 10 unrelated families, 9 different mutations were identified: Asp47His, Gly232Arg, c.

[Clinical, genealogical and molecular genetic study of Emery-Dreifuss muscular dystrophy].

A search for emerin and lamin A/C (LMNA) mutations was performed in a group of 63 unrelated patients with probable Emery-Dreifuss muscular dystrophy (EDMD) and other MD's with concomitant dilated cardiomyopathy (DCMP). Four different emerin mutations and 7 LMNA mutations were found in unrelated patients. One emerin mutation and 2 LMNA mutations, one of the latter being found twice, have been registered earlier; the rest of the mutations are novel.

[Types of Y chromosome deletions and their frequency in infertile men].

Deletions of Y chromosome AZF locus were analyzed during a large-scale andrological and genetic examination of 810 infertile men. The search for Yq microdeletions was carried out according to the standard EAA/EMQN guidelines. The breakpoints were mapped for the deletions in AZF locus.

[DNA-diagnosis of Emery-Dreifuss muscular dystrophy].

The experience of DNA-diagnosis of X-linked recessive Emery-Dreifuss muscular dystrophy for the first time made in Russia is presented. A search for mutations in emerin gene responsible for the disease has been conducted in 13 blood samples of male patients with clinical diagnosis of various muscular dystrophy. Mutations were found in 2 patients.