Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population

Hereditary nonsyndromic sensorineural hearing loss is a disease in which hearing loss occurs due to damage to the organ of the inner ear, the auditory nerve, or the center in the brain that is responsible for the perception of sound, characterized by wide locus and allelic heterogeneity and different types of inheritance. Given the diversity of population of the Russian Federation, it seems necessary to study the ethnic characteristics of the molecular causes of the disease. The aim is to study the molecular and genetic causes of hereditary sensorineural hearing loss in Chuvash, the fifth largest ethnic group in Russia. DNA samples of 26 patients from 21 unrelated Chuvash families from the Republic of Chuvashia, in whom the diagnosis of hereditary sensorineural hearing loss had been established, were analyzed using a combination of targeted Sanger sequencing, multiplex ligase-dependent probe amplification, and whole exome sequencing. The homozygous variant NM_133261.3(GIPC3):c.245A>G (p.Asn82Ser) is the major molecular cause of hereditary sensorineural hearing loss in 23% of Chuvash patients (OMIM #601869). Its frequency was 25% in patients and 1.1% in healthy Chuvash population. Genotyping of the NM_133261.3(GIPC3):c.245A>G (p.Asn82Ser) variant in five neighboring populations from the Volga-Ural region (Russian, Udmurt, Mary, Tatar, Bushkir) found no evidence that this variant is common in those populations

Regionally Adapted Model of an Ideal <i>Malus×domestica</i> Borkh Apple Variety for Industrial-Scale Cultivation in European Russia

Apple is one of the most common fruit crops in the Russian fruit-growing industry, with huge varietal diversity and a vast cultivation area. The key regions for industrial-scale apple cultivation are the Central, Central Chernozem, and North Caucasian Districts. The main disadvantage of the relevant apple cultivars, especially the ones intended for intensified horticultural practices, is their low resistance against abiotic stresses and the fruit’s low quality and poor marketable condition. In Russia, apple is a crop of strategic importance that is consistently included in the household food basket, so fruit producers hold new varieties to higher standards and expect them to outperform their predecessors in terms of yield per plant, resistance against abiotic and biotic stresses, and quality, as well as show strong competitiveness and a more rapid return on investment, while satisfying stricter requirements. The objective of the present study was to summarize the data on the phenotypic manifestations of economically valuable traits of the apple cultivars approved for use in the Russian Federation depending on the region of cultivation; to determine the parametric characteristics of the most valuable traits in the form of a model of an “ideal” regionally adapted industrial cultivar, and to identify the sources of the traits in the regions suitable for their production. A regionally adapted model of commercial apple cultivars, characterized by 28 features and properties divided into three groups and defining the cultivar’s resistance against abiotic and biotic stresses, yield per plant, product quality, and suitability for mechanized harvesting, is presented in this paper. In the European part of Russia, the optimal parameters of a commercial apple tree cultivar are as follows: plant height on a medium-sized rootstock under 3 m; potential yield per plant of at least 25–50 kg; high fruit uniformity above 80%; winter and late-winter harvest maturity period; high storability of over 210 days and good transportability; average fruit mass from 120 g to 220 g; juicy and shattering crisp pulp; small seed cavity; fragrant fruits with taste rating of at least 4.5 points; appearance rating of 5 points and attractive, mostly red, glossy color with natural wax bloom; regular, symmetric, but diverse shapes; content of sugar above 10%, ascorbic acid above 15 mg/100 g, organic acids up to 1% (for dessert varieties); content of soluble dry solids of at least 20%. The cultivars that come closest to the regionally adapted model of an ideal variety based on the set of features discussed are as follows: Feya, Soyuz, Orfej, Margo, Sirius, Noktyurn, Vasilisa Karmen, Florina, Dayton, Early Mac, Gala and Gala Schniga in the North Caucasian District; Svezhest’, Orlovskoe Poles’e, Aprel’skoe, Ven’yaminovskoe, Bolotovskoe, Vympel, Uspenskoe, Fregat, Bylina, Flagman, and Akademik Kazakov in the North Caucasian District; and varieties Imrus, Mayak Zagor’ya, and Bolotovskoe in the Central District. These cultivars are characterized by high resistance against weather anomalies, scab immunity, high yields, marketable quality, and storability. In addition, in southern regions, a prolonged bloom period acts as a protective adaptive response to low-temperature stress

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders

Abstract Background Primary microcephaly represents an example of clinically and genetically heterogeneous condition. Here we describe a case of primary microcephaly from the Karachay-Cherkess Republic, which was initially diagnosed with Seckel syndrome. Case presentation Clinical exome sequencing of the proband revealed a novel homozygous single nucleotide deletion in ASPM gene, c.1386delC, resulting in preterm termination codon. Population screening reveals allele frequency to be less than 0.005. Mutations in this gene were not previously associated with Seckel syndrome. Conclusions Our case represents an additional support for the clinical continuum between Seckel Syndrome and primary microcephaly

Recent Developments and Results on Double Beta Decays with Crystal Scintillators and HPGe Spectrometry

International audienceRecent developments, results, and perspectives arising from double beta decay experiments at the Gran Sasso National Laboratory (LNGS) of the INFN by using HPGe detectors and crystal scintillators and by exploiting various approaches and different isotopes are summarized. The measurements here presented have been performed in the experimental set-ups of the DAMA collaboration. These setups are optimized for low-background studies and operate deep underground at LNGS. The presented results are of significant value to the field, and the sensitivity achieved for some of the considered isotopes is one of the best available to date