Sociological analysis of contemporary identities and childlessness among young couples.

The purpose of this research is to study the attitude towards the child phenomenon in the current world. In today's world, we are witnessing change and transformation in all aspects of individual, family and social life. Changes that are inevitable and necessary for the world that surrounds us. Hence, many pre-existing gender roles and sources of identity have lost their priority for modern man and provided him with newer possibilities for self-presentation and a sense of worth. The couple's attitude towards the child, as much as it is an individual or marital decision and choice, can be a result of the change of the couple's identity in the new era, which in both cases (Wanting or not wanting child) will have different consequences on the couple of the last decade than the couples of previous generations. The method of this theory is data foundation. The data required for this study are the result of a semi-structured interview with 18 young couples. The method of selecting participants is purposeful and accessible and their number is determined by reaching the saturation stage. Based on the results of the research, the two central phenomena of "unilateral unstable agreement" and "priority of navigation to adherence" were selected as the central phenomena and the selective phenomenon of "identity fluidity" was selected as the main paradigm. One of the causes of this phenomenon is rethinking identity and self-awareness is a process that results in the social acceptance of childlessness in society

Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: Implication for genetic counseling

► Report of a de novo dominant mutation in GJB2 in a large inbred family. ► Unexpected heterogeneity of dominant and recessive mutations in GJB2. ► This study highlights mutation analysis of all affected individuals in pedigree. Mutations in the GJB2 gene are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss (HL). A few mutations in GJB2 have also been reported to cause dominant nonsyndromic HL. Here we report a large inbred family including two individuals with nonsyndromic sensorineural hearing loss. A dominant GJB2 mutation, c.551G>A (p.R184Q), was detected in the proband, yet his parents were negative for the mutation. The second affected person had heterozygous c.35delG mutation, which was inherited from his father. Large deletions of the GJB6 gene were not detected in this family. This study highlights the importance of mutation analysis in all affected cases within a pedigree

Comprehensive Analysis Via Exome Sequencing Uncovers Genetic Etiology In Autosomal Recessive Non-Syndromic Deafness In A Large Multiethnic Cohort

Purpose Autosomal recessive non-syndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity with reported mutations in 58 different genes. This study was designed to detect deafness causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES). Methods After excluding mutations in the most common gene, GJB2, we performed WES in 160 multiplex families with ARNSD from Turkey, Iran, Mexico, Ecuador and Puerto Rico to screen for mutations in all known ARNSD genes. Results We detected ARNSD-causing variants in 90 (56%) families, 54% of which had not been previously reported. Identified mutations were located in 31 known ARNSD genes. The most common genes with mutations were MYO15A (13%), MYO7A (11%), SLC26A4 (10%), TMPRSS3 (9%), TMC1 (8%), ILDR1 (6%) and CDH23 (4%). Nine mutations were detected in multiple families with shared haplotypes suggesting founder effects. Conclusion We report on a large multiethnic cohort with ARNSD in which comprehensive analysis of all known ARNSD genes identifies causative DNA variants in 56% of the families. In the remaining families, WES allows us to search for causative variants in novel genes, thus improving our ability to explain the underlying etiology in more families.PubMedWoSScopu