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Heterozygous - Springer Nature

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Last Updated: 11 July 2022

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Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts

Objectives: The SLC26A4 -related genotypes and phenotypes were analyzed to determine the underlying causes of hearing loss in patients with elevated vestibular aqueduct aqueducts. Methods The patients who came to our hospital for hearing test and accompanied by bilateral hearing abnormalities were tested for fifteen deafness-related gene mutations analysis. Results Both patients failed hearing screening on both directions twice, and EVA was confirmed by CT. Conclusion Our results expand the gene mutation spectrum of SLC26A4 and provide more insight into diagnosis and genetic counseling related to EVA-induced hearing loss.

Source link: https://doi.org/10.1186/s12920-022-01271-3


Long-term cancer risk in heterozygous familial hypercholesterolemia relatives: a 25-year cohort study

Patients are vulnerable to elevated cholesterol levels and other morbidities as a result of familial hypercholesterolemia due to low-density lipoprotein receptor mutations, and patients are at an elevated risk of adverse cardiovascular events and other morbidities. It's unclear if the LDLR mutation and elevated cholesterol levels influence cancer risk. The purpose of the present study was to determine the long-term cancer risk in HeFH families. Based on birth year, gender, and address, a comparison cohort was matched 10:1 to the relatives from the Danish general population based on birth year, ethnicity, and location. In comparison to the general population group, the crude hazard ratio of our primary endpoint showed no differences in cancer prevalence in mutation-carrying families. Thus, the risk among mutation-carrying HeFH relatives compared to nonmutation-carrying HeFH relatives was raised. Conclusions Conclusion In Denmark, LDLR mutation-carrying HeFH families did not have a different cancer risk than the general population.

Source link: https://doi.org/10.1186/s12944-022-01666-2


SOD1 D91A variant in the southernmost tip of Europe: a heterozygous ALS patient resident on the island of Gozo

Mutations in the SOD1 gene are common causes of Amyotrophic lateral sclerosis. In southern Europe, we feature the first SOD1 version in Malta, an archipelago of three inhabited islands. We describe a patient with a sporadic form of ALS living on the island of Gozo in which the heterozygous SOD1 c. 272A > C; p. variant was discovered. ALS hasn't developed in any of the three additional family members in which the D91A variant was identified, but no one of the three additional family members in which the D91A variant was found was found.

Source link: https://doi.org/10.1038/s41431-021-00975-x


Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct

The presence of interlobular bile duct paucity in Paucity is a heterogeneous disorder characterized in two forms, syndromic and non-syndromic bile duct paucity. The presence of clinical manifestations of Alagille syndrome is characteristic of Syndromic PILBD. A marginal decrease in CACYBP and u03b2-catenin levels in patients' livers in early infancy showed a modest decrease in CACYBP and u03b2-catenin levels that almost normalized by 13 months of age, according to immunohistochemical testing. The CACYBP/SIP p. E177Q pathogenic variant may lead to a more active or stable ubiquitin ligase complex that causes increased u03b2-catenin degradation and delays the maturation of intrahepatic bile ducts.

Source link: https://doi.org/10.1038/s10038-022-01017-0


Predisposition of HLA-DRB1*04:01/*15 heterozygous genotypes to Japanese mixed connective tissue disease

Mixed connective tissue disease is a rare systemic autoimmune disease characterized by the production of anti-U1 ribonucleoprotein antibodies and systemic signs similar to those of other autoimmune disorders. MCTD is one of the key genetic risk factors for MCTD, according to HLA-DRB1 polymorphisms, but specific links of DRB1 genotypes with MCTD have not been established in Japanese people. The following alleles were found to be associated with MCTD's predisposition: HLA-DRB1*04:01 and DRB1*09:01. 01 and DRB1*09:01. In comparison, the DRB1*13:02 allele's frequency was lower in MCTD patients than in controls.

Source link: https://doi.org/10.1038/s41598-022-14116-x

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions