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Background: Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia that is characterized by variable degrees of epiphyseal abnormality primarily involving the hip and knee joints. Mutations in a gene encoding matrilin-3 (MATN3) have been reported as disease causing of autosomal dominant MED. The current study identified a novel c.572 C > A variant (p.A191D) in exon 2 of MATN3 in a Vietnamese family with MED. Case presentation: A standard clinical tests and radiological examination were performed in an 8-year-old Vietnamese girl patient. The clinical examination showed that patient height was under average, with bent lower limbs, limited mobility and dislocation of the joints at both knees. Radiological documentation revealed abnormal cartilage development at the epiphysis of the femur and patella. The patient has a varus deformity of the lower limbs. The patient was diagnosed with autosomal dominant MED using molecular testing in the order of the coding sequences and flanking sequences of five genes: COMP (exons 8-19), MATN3 (exon 2), COL9A2 (exon 3), COL9A3 (exon 3), COL9A1 (exon 8) by Sanger sequencing. A novel heterozygous missense variant (c.572 C > A, p.A191D) in MATN3 was identified in this family, which were not inherited from parents. The p.A191D was predicted and classified as a pathogenic variant. When the two predicted structures of the wild type and mutant matrilin-3 were compared, the p.A191D substitution caused conformational changes near the substitution site, resulting in deformity of the β-sheet of the single A domain of matrilin-3. Conclusions: This is the first Vietnamese MED family attributed to p.A191D matrilin-3 variant, and our clinical, radiological and molecular data suggest that the novel de novo missense variant in MATN3 contributed to MED.

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Penicillium oxalicum has been reported as a multienzyme producing fungus and is widely used in industry due to great potential for cellulase release. Until now, there are only ten available genome assemblies of P. oxalicum species deposited in the Genbank database. In this study, the genome of the I1R1 strain isolated from the root of Ixora chinensis was completely sequenced by Pacbio Sequel sequencing technology, assembled into eight chromosomes with the genome size of 30.8 Mb, as well as a mitogenome of 26 Kb. The structural and functional analyses of the I1R1 genome revealed gene model annotations encoding an enzyme set involved in significant metabolic processes, along with cytochrome P450s and secondary metabolite biosynthesis. The comparative analysis of the P. oxalicum species based on orthology and gene family duplications indicated their large and closed pan genome of 9,500 orthologous groups. This is valuable data for future phylogenetic and population genomics studies.

Objectives: Genetic characteristics were investigated based on short tandem repeat (STR) data to assess the relationship between two Vietnamese Bouyei populations in Vietnam. Methods: We collected hair and buccal swab samples from two separate Bouyei populations in the mountainous region of Northern Vietnam, which are the Bo Y in Ha Giang Province and the Tu Di in Lao Cai Province. The study included data of 23 autosomal and 27 Y-chromosome STRs loci of 96 unrelated participants from a total Vietnamese Bouyei population of under 3300 individuals. Results:The results showed that these STR markers are valuable for differentiation of individuals and human genetic studies in Vietnamese Bouyei populations. Genetic analysis indicated that Tu Di and Bo Y people were from the same Bouyei population in China. Conclusions:The results supported the official historical records of the region and the classification of the Vietnamese government. Furthermore, the genetic data provided in this study will be helpful in investigating the genetic genealogy evolution and settlement or migration patterns of the Bouyei populations in Vietnam.