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BACKGROUP: HTRA1 gene homozygous mutations result in cerebral autosomal recessive arteriopathy with subtical infarcts and leukoencephalopathy. In patients with autosomal dominant cerebral small vessel disease, heterozygous pathogenic variants of HTRA1 were reported. We investigated the genetic variants of a cohort of Chinese patients with CSVD here. Methods: A total of 95 Chinese index patients with typical CSVD features were collected. In five index patients, we found five heterozygous HTRA1 pathogenic variants. Conclusion: Our research extended the mutation spectrum of HTRA1, especially in Chinese populations, and provided more insight into u201chot regions, u201d in exon 1u20134, particularly in exon 4 in heterozygous HTRA1 pathogenic variants. Patients with heterozygous HTRA1 pathogenic variants of HTRA1 disease bacterial variants had similar but less severe characteristics than CARASIL, but not in an autosomal dominantly inherited pattern, according to our findings.
Source link: https://doi.org/10.3389/fgene.2022.909131
Hereditary breast cancer accounts for 5% of all BC and a larger parcel of early-onset disease. A germline multi-gene hereditary cancer panel tested 1,156 women with early onset BC and/or a family history of cancer by a single-institution retrospective review. In 19. 5% of the patients, 91 percent of the individuals were identified with Germline pathogenic variants in high- and/or moderate-penetrance BC genes. When compared to those with one germline variant, there were no significant differences in age of BC birth and risk in bilateral BC in DH carriers, including those with just one germline variant.
Source link: https://doi.org/10.3389/fonc.2022.873395
The WNT1 gene is particularly important for bone formation and homeostasis. The WNT1's homozygous mutations cause bone fragility identified as osteogenesis imperfecta type XV. In addition, heterozygous WNT1 mutations have been identified in adults with early-onset osteoporosis. We discovered a 35-year-old Caucasian woman who sustained multiple vertebral fractures two months after her second pregnancy. There is no evidence to point to secondary osteoporosis or family history of osteoporosis in the United States. However, the fact that the Leucine residue at position 370 is highly conserved among vertebrate species and the variant has a low allelic frequency in the general population would rule out a polymorphism. BMD elevated at lumbar spine, femoral neck, and total hip after 24 months of teriparatide treatment, relative to baseline. We know that the heterozygous WNT1 mutation could result in bone fragility and low turnover osteoporosis.
Source link: https://doi.org/10.3389/fendo.2022.918682
The CLN8 disease type refers to one of the neuronal ceroid lipofuscinoses, which are the most common group of neurodegenerative disorders in childhood. We review two patients with a rare phenotypic appearance and protracted clinical course of CLN8 containing a new compound heterozygous version of the CLN8 gene in the new study. The effects of compound heterozygous variants of CLN8 disease were confirmed and extended by the participants in our research.
Source link: https://doi.org/10.3390/genes13081393
Around half of all FTLD cases with identified genetic origins in Portugal. Here, we describe the generation and characterization of three human-induced pluripotent stem cell lines from a Portuguese family that are harboring heterozygous and homozygous GRN mutations. By episomal nucleofection of the Yamanaka factors, human dermal fibroblasts were reprogrammed from human dermal fibroblasts. In the context of FTLD, these cell lines would be useful new tools to determine the pathophysiological processes associated with the GRN mutations.
Source link: https://doi.org/10.3390/biomedicines10081905
Lipoprotein, an atherogenic lipoprotein that raises HeFH-u201-related cardiovascular disease risks. It's unclear if circulating Lp level correlates with polyvascular propagation of atherosclerosis in HeFH patients. Patients with HeFH and polyVD were analyzed for clinical characteristics and lipid characteristics; 5. 7% of HeFH patients with polyVD were diagnosed with polyVD. In addition, an elevated Lp level and a higher incidence of Lp level u226550 mg/dL were observed in HeFH and polyVD subjects. According to Lp u226500 mg/dL, the prevalence of polyVD increased to 33. 3% in patients with HeFH and age > 58 years old, family history of premature coronary artery disease, and Lp u226550 mg/dL. Conclusions An increased number of circulating Lp levels predicted the concomitance of polyVD in patients with HeFH. The latest findings suggest HeFH and Lp [u226550 mg/dL] as a high risk group that requires stringent screening of systemic vascular beds.
Source link: https://doi.org/10.1161/jaha.121.025232
In the first proband, a novel hemizygous mutation for CD40L in exon 2 was identified, resulting in the substitution of glycine for glutamic acid at 86 codons of the protein, causing the early termination of translation at downstream codon 9. Two new compound heterozygous mutations in DOCK8 have been found, one at exon 14, c. 1546C > G inherited from his father, and another at exon 41, c. 5355 + 6C > T from his mother.
Source link: https://doi.org/10.21203/rs.3.rs-1559788/v1
Differentials in the nuclear receptor superfamily 4 group A member 2 of the autosomal dominant neurodevelopmental disorder with or without seizures can be present. C's canonical splicing variant c. 1541-2A> C caused aberrant splicing, resulting in the retention of intron 7 and a truncated protein as a result of reduced protein expression intron 7, while the variant c. 915C > A was shown to result in a shorter protein with increased expression unexpectedly.
Source link: https://doi.org/10.3389/fnins.2022.956429
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