Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

Autozygosity mapping (AM) is a technique utilised for mapping homozygous autosomal recessive (AR) traits and facilitation of genetic diagnosis. We investigated the utility of AM for the molecular diagnosis of heterogeneous AR disorders, using epidermolysis bullosa (EB) as a paradigm. We applied this technique to a cohort of 46 distinct EB families using both short tandem repeat (STR) and genome-wide single nucleotide polymorphism (SNP) array-based AM to guide targeted Sanger sequencing of EB candidate genes. Initially, 39 of the 46 cases were diagnosed with homozygous mutations using this method. Independently, 26 cases, including the seven initially unresolved cases, were analysed with an EB-targeted next-generation sequencing (NGS) panel. NGS identified mutations in five additional cases, initially undiagnosed due to the presence of compound heterozygosity, deep intronic mutations or runs of homozygosity below the set threshold of 2 Mb, for a total yield of 44 of 46 cases (95.7) diagnosed genetically. © 2018 John Wiley & Sons Ltd

Are Dyskeratosis Congenita patients at higher risk of symptomatic COVID-19?

Dyskeratosis Congenita (DC) is a rare and heterogeneous disease. This disorder is resulted from a defect in the telomere maintenance in stem cells. Telomerase RNA component, shelterin complex, and telomerase reverse transcriptase are mutated in this disease. Many studies have previously confirmed shorter leukocyte telomere length in DC. On the other hand, the association between telomere length and Coronavirus disease 2019 (COVID-19) indicated that people with a short telomere background mostly show more severe symptoms related to COVID-19, and the mortality rate among them increases as well. Because patients with DC have an abnormally short telomere length, in the current study, we hypothesized that they are at higher risk of developing symptomatic COVID-19 that requires further clinical care. © 2022 Elsevier Lt

Potential functions of the human homeobox TGIFLX/Y genes in normal and abnormal development

Homeobox genes encode transcription factors that play important roles in the developmental and normal cellular processes in all metazoans. TGIFLX/Y (TGIFLX and TGIFLY) are members of the homeobox superfamily of genes. Their expression is specifically detected in human adult testis but their functions remain to be investigated. Identification of relevant target genes should make a key contribution to a complete understanding of the mechanisms by which TGIFLX/Y functions in both normal and abnormal developmental processes. In this review, we provide an overview of recent studies on different aspects of TGIFLX/Y with a focus on the current state of research about their roles in tumorigenesis and azoospermia