However, subsequently, the population frequency of this genetic variant in Russia appeared to be significantly higher than the incidence of adenomatous polyposis itself. Additional bioinformatic analysis of copy number variation (CNV) revealed previously undescribed large heterozygous deletion in three ...
Hence, the structure variation study of lamin A/C could provide novel insight into the pathogenic process in LMNA-DCM. Fig. 1 (A) The structure of lamin A/C. (B) The wild type α-Helix structure in object region. (C) The pathongenic α-Helix variant of lamin A/C-p.Arg156Pro(...
Hereditary peripheral neuropathies present a group of clinically and genetically heterogeneous entities. All known forms, including the various forms of Charcot-Marie-Tooth disease (CMT) are characterized as Mendelian traits and over 35 genes have been identified thus far. The mutational mechanism of th...
Some members, such as a brother aged 34 years, who had this inversion suffered from recurrent pregnancy loss while other members of similar reproductive age did not. Conclusions inv(9)(p22q13) might be a hereditary anomaly that might be a risk factor for recurrent pregnancy loss in its ...
Beta-hemoglobinopathies become prominent after birth due to a switch from γ-globin to the mutated β-globin. Haploinsufficiency for the erythroid specific indispensable transcription factor Krueppel-like factor 1 (KLF1) is associated with high persisten
Previously its paralogous gene DIAPH1 was regarded as the causative gene of DFNA1 [6] and microcephaly syndrome [7]. In this study, by combining linkage analysis, whole exome sequencing (WES), Sanger sequencing and bioinformatic analysis, we determined the genetic cause of hereditary deafness ...
Results: Respondents interpreted genetic or hereditary causes and nongenetic causes in a variety of ways. Subjects with breast cancer reported the most consistently negative interpretation of genetic cause. This response concerned future ill health, not an enduring sense of stigma. Deaf and hard of ...
DFNB23 is listed on the Hereditary Hearing Loss Homepage and may be an allelic variant of PCDH15. It is not unusual to observe phenotypic differences between species carrying a mutation in the orthologous gene; however, allelic differences can also underlie the variation in phenotype (Libby and ...
Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs have emerged as a cause of recessive, often complex neurological disease traits. Here we repor
variant and an additional TTN variant.12 Hereditary myopathy with early respiratory failure (OMIM 603689), an autosomal dominant disease involving proximal, distal and respiratory muscles, represents yet another entity caused by TTN variants.13 The spectrum of titinopathies is constantly being broadened...