Cockayne syndrome (CS) is a rare progeroid disorder characterized by growth failure, microcephaly, photosensitivity, and premature aging, mainly arising from biallelic ERCC8 (CS-A) or ERCC6 (CS-B) variants. In this study we describe siblings suffering from classical Cockayne syndrome but without photosensitivity, which delayed a clinical diagnosis for 16 years. By whole-exome sequencing we identified the two novel compound heterozygous ERCC8 variants c.370_371del (p.L124Efs*15) and c.484G>C (p.G162R). The causality of the ERCC8 variants, of which one results in a frameshift and the other affects the WD3 domain, was tested and confirmed by a rescue experiment investigating DNA repair in H2O2 treated patient fibroblasts. Structural modeling of the p.G162R variant indicates effects on protein-protein interaction. This case shows the importance to test for ERCC6 and ERCC8 variants even if patients do not present with a complete CS phenotype.

Male infertility is a reproductive disease in men caused by multiple factors ranging from harmful lifestyle habits to endogenous genetic elements. This study aimed to investigate the association between the polymorphism AhRR rs2292596 and male infertility. Total DNA was extracted from blood of 422 Vietnamese samples including 218 non-obstructive azoospermic and oligozoospermic patients and 204 healthy controls. The genotypes of the polymorphism were determined by PCR-RFLP method. The distribution of genotypes and their relationship with male infertility were analyzed by statistical methods. The results indicated that rs2292596 AhRR followed Hardy-Weinberg equilibrium (p-value > 0.05). However, there was association between the rs2292596 polymorphism and male infertility in the three models (additive, dominant, and recessive) (p-value > 0.05). The investigation would help enrich the knowledge about the influences of genetic factors on male infertility in the Vietnamese population.

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Reproductive impairment in men is a multifactorial disease and is currently considered a global health issue. Previous studies have investigated the correlation between genetic variants and male infertility in different populations. However, such studies have appeared in limited amounts in the Vietnamese population. This study aimed to assess the association of polymorphisms FSIP2 rs4666689 and PON2 rs7493 with male infertile susceptibility in the Vietnamese population. Total DNAs were isolated from 376 samples, including 175 males with infertility and 201 controls having at least one child. For FSIP2 rs4666689, all 376 samples were applied for genotyping using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). For PON2 rs7493, only 178 samples (80 infertile patients and 98 controls) were used to assess genotype frequencies. By using statistical methods, we showed that the distribution of their genotypes was in accordance with Hardy-Weinberg equilibrium (p-values > 0.05). However, no association between both polymorphisms (FSIP2 rs4666689 and PON2 rs7493) and male infertility in the Vietnamese population was detected (p-values > 0.05). This study would help enrich to the knowledge about the effects of hereditary factors on male infertility in the Vietnamese population.

Cilia- and flagella-associated protein (CFAP) is a well-known protein family that plays a vital role in the spermatogenic process. Recently, the gene CFAP65, which encodes the cilia- and flagella- associated protein 65, has been focused on as a new candidate for male infertility. Mutations in this gene are frequently detected in patients with primary infertility, especially among cases with combined phenotypes of acrosome abnormalities and multiple morphological abnormalities of the flagella (MMAF). In addition, mice carrying both a complete knock-out of the CFAP65 gene and a CFAP65 homozygous frameshift mutation exhibited sterility with the typical phenotypes of MMAF. However, no case-control study has been performed on the relationship between polymorphisms in CFAP65 and male infertility in any population. Hence, our study aimed to investigate the correlation between the polymorphism CFAP65 rs117885048 and male infertility in a Vietnamese population comprising 207 infertile men and 217 healthy controls. As a result, the studied population followed Hardy-Weinberg equilibrium (HWE) (p> 0.05) and the frequencies of genotypes CC/CT/TT were 0.875, 0.12, and 0.003, respectively. The Chi-square test revealed no association between the polymorphism CFAP65 rs117885048 and the disease in this population (p > 0.05). To further interpret the correlation between single nucleotide polymorphisms in the CFAP65 gene and male infertility, a more comprehensive study with other polymorphisms needs to be considered.