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Heterozygous - DOAJ

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Last Updated: 11 August 2022

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Novel compound heterozygous mutation in STAMBP causes a neurodevelopmental disorder by disrupting cortical proliferation

STAMBP variants' functional and phenotypic characteristics of the patient with a neurodevelopmental disorder were examined further by a researcher with a neurodevelopmental disorder. In the case of microcephaly, cortical organoids with STAMBP knockout showed significantly reduced proliferation of neural stem cells, leading to smaller organoids that are characteristic of microcephaly. In addition, STAMBP disruption did not influence early cortical organoids' apoptosis. STAMBP deficient organoids' impaired proliferation of STAMBP deficient organoids is evident in patients with different STAMBP genotypes, including STAMBPG303E and STAMBPT313I, according to the authors. The STAMBP missense mutation identified here is a novel pathogenic mutation that hinders the proliferation of NSCs in human brain development.

Source link: https://doi.org/10.3389/fnins.2022.963813


Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease

In patients with autosomal dominant cerebral small vessel disease, heterozygous pathogenic variants of HTRA1 were reported. We investigated the genetic variants in a group of Chinese patients with CSVD. Methods: A total of 95 Chinese index patients with CSVD were identified. Results: In five index patients, we found five heterozygous HTRA1 pathogenic variants. Pathogenicity prediction software was used to determine the pathogenicity of the identified variants. Conclusion: Our research expanded the mutation spectrum of HTRA1, particularly in Chinese populations, and provided more insight into u201d exon 1u20134, especially in exon 4's heterozygous HTRA1 pathogenic variants. Patients with heterozygous HTRA1 pathogenic variants of HTRA1 infection exhibited similar but less severe symptoms than CARASIL, but not in an autosomal dominantly inherited pattern, according to our research.

Source link: https://doi.org/10.3389/fgene.2022.909131


Case report: Identification of a novel heterozygous germline ERCC2 mutation in a patient with dermatofibrosarcoma protuberans

Surgical resection is the most effective therapy for DFSP, but the local recurrence rate of DFSP is high. Except reported specific chromosomal tran7slocations in DFSP, the relationship between DNA repair gene mutations and DFSP is still unclear. a 19-year-old boy with DFSP has a novel heterozygous germline ERCC2 mutation, which belongs to the nucleotide excision repair pathway and genetic defects in ERCC2, which can cause tumor susceptibility, cardiovascular disease, and trichothiodystrophy.

Source link: https://doi.org/10.3389/fonc.2022.966020


Fatal, hemorrhagic stroke despite thrombectomy after Tirone-David procedure in novel compound heterozygous Marfan syndrome

Marfan syndrome is a rare hereditary connective tissue disorder linked to mutations in FBN-1. With valve abnormalities and ectasia of the aorta requiring surgical repair therapy, Marfan syndrome appears in the center. The patient is a 39yo female with Marfan syndrome due to a compound heterozygous mutation in FBN-1, according to a Cicte report: five weeks after replacement therapy by means of a Tirone-David procedure has not been confirmed. Because of the increasing aorta's increasing aorta, aortic valve insufficiency, and ectasia of the ascending aorta, she underwent a Tirone-David procedure and mitral valve replacement therapy. Conclusions: surgical repair therapy of the mitral valve and the ascending aorta with the preservation of the aortic valve in Marfan syndrome may be complicated by myocardial infarction even 5 weeks after surgery. Myocardial infarction may be complicated by a fatal cardio-embolic stroke involving secondary intracerebral bleeding.

Source link: https://doi.org/10.1016/j.hest.2022.01.002


Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer

Breast cancer is responsible for 5% of all BC and a larger area of early-onset disease. The incorporation of next-generation sequencing methods reduced the cost of molecular testing and allowed the inclusion of additional cancer predisposition genes in panels that are more comprehensive. A germline multi-gene hereditary cancer panel tested 1,156 women with early onset BC and/or a family history of cancer. We conducted a single-institution retrospective study in which 1,156 women with early onset BC and/or a family history of cancer were tested by a germline multi-gene hereditary cancer panel. When compared to those with one germline variant, there were no significant differences in the age of BC onset and risk of bilateral BC in DH carriers when compared to those with one germline variant.

Source link: https://doi.org/10.3389/fonc.2022.873395


Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene

Homozygous mutations in WNT1 result in bone fragility that is identified as osteogenesis imperfecta type XV. In addition, heterozygous WNT1 mutations have been identified in adults with early-onset osteoporosis. Two months after her second pregnancy, we discovered a 35-year-old Caucasian woman who suffered multiple vertebral fractures. There is no evidence for secondary osteoporosis or family history of osteoporosis in the United States. Secondary causes of bone fragility were not identified by blood tests, which were not related to bone fragility. However, the fact that the Leucine residue at position 370 is highly preserved among vertebrate species and the variant has a low allelic frequency in the general population should rule out the possibility of a polymorphism. Compared to baseline, BMD increased at lumbar spine, femoral neck, and total hip after 24 months of teriparatide therapy. We have discovered that the heterozygous WNT1 mutation may contribute to bone fragility and low turnover osteoporosis.

Source link: https://doi.org/10.3389/fendo.2022.918682


Two novel heterozygous truncating variants in NR4A2 identified in patients with neurodevelopmental disorder and brief literature review

Pathogenic variants of the nuclear receptor superfamily 4 group A member of the Affective Neurodevelopmental disorder with or without seizures. Our study has found that NR4A2 is a disease-causing gene of neurodevelopmental disorders, and that changes in varying areas of NR4A2 contribute to varying degrees of symptoms.

Source link: https://doi.org/10.3389/fnins.2022.956429


Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg

Neurodegeneration in childhood is attributed to mutations in the FA2H gene. Here we introduce AKOSi010-A, a human induced pluripotent stem cell line isolated from fibroblasts of a female patient carrying the compound heterozygous p. Gly45Arg/p. His319Arg, which uses non-integrating Sendai virus.

Source link: https://doi.org/10.1016/j.scr.2022.102863


Establishment of a human induced pluripotent stem cell line, KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del mutation in the NIPBL gene leading Cornelia de Lange syndrome (CdLS)

Cornelia de Lange syndrome is a complex congenital anomalies syndrome characterized by mutations in the cohesion complex. Using the CytoTune-iPS2. 0 Sendai Reprogramming Kit, peripheral blood mononuclear cells from a patient with a heterozygous 3 bp deletion in Exon 37 of the NIPBL gene were reprogrammed.

Source link: https://doi.org/10.1016/j.scr.2022.102860

* 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