Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer
Conclusion
We have shown a high rate of detection of BRCA1 and BRCA2 PVs in triple negative and grade 3 ER+HER2– first primary diagnoses, respectively. High rates of HER2+ were associated with CHEK2 PVs, and women ≤30 years were associated with TP53 PVs. First primary ER status in BRCA1/2 strongly predicts the second tumour will be the same ER status even if unusual for PVs in that gene. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Evans, D. G., Burghel, G. J., Schlecht, H., Harkness, E. F., Gandhi, A., Howell, S. J., Howell, A., Forde, C., Lalloo, F., Newman, W. G., Smith, M. J., Woodward, E. R. Tags: Cancer genetics Source Type: research
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
Conclusion
We provide a comprehensive phenotypic characterisation of the pathogenic variant TRAPPC11 c.1287+5G>A, which is founder in the Roma population. Our observations indicate that some typical features of golgipathies, such as microcephaly and clinical decompensation associated with infections, are prevalent in individuals with LGMD R18. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Justel, M., Jou, C., Sariego-Jamardo, A., Julia-Palacios, N. A., Ortez, C., Poch, M. L., Hedrera-Fernandez, A., Gomez-Martin, H., Codina, A., Dominguez-Carral, J., Muxart, J., Hernandez-Lain, A., Vila-Bedmar, S., Zulaica, M., Cancho-Candela, R., Castro, M Tags: Open access Genotype-phenotype correlations Source Type: research
Early breast cancer risk detection: a novel framework leveraging polygenic risk scores and machine learning
Conclusion
BRECARDA can enhance disease risk prediction, identify high-risk individuals for BC screening, facilitate disease diagnosis and improve population-level screening efficiency. It can serve as a valuable and supplemental platform to assist doctors in BC diagnosis and evaluation. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Tao, L. R., Ye, Y., Zhao, H. Tags: Genotype-phenotype correlations Source Type: research
Genotype and sleep independently predict mental health in Rett syndrome: an observational study
Conclusion
Findings indicated that genotype and sleep have implications for mental health in Rett syndrome, suggesting that anticipatory guidance and proactive management of poor sleep could improve mental health. More research is needed to understand the effects of psychometric medications, which cannot be inferred from this cross-sectional study. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Kay, C., Leonard, H., Smith, J., Wong, K., Downs, J. Tags: Genotype-phenotype correlations Source Type: research
Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation
Conclusions
VWA8 plays a significant role in retinal development and visual function. This finding may provide new insights into RP pathogenesis and potential genes for molecular diagnosis and targeted therapy. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Kong, L., Chu, G., Ma, W., Liang, J., Liu, D., Liu, Q., Wei, X., Jia, S., Gu, H., He, Y., Luo, W., Cao, S., Zhou, X., He, R., Yuan, Z. Tags: Genotype-phenotype correlations Source Type: research
Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples
Conclusion
LP GS is a promising, robust alternative to CMA in clinical settings. A total of 25 M UAHRs are sufficient for detecting aneuploidies and most microdeletions/microduplications. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Qian, Y., Sun, Y., Guo, X., Song, L., Sun, Y., Gao, X., Liu, B., Xu, Y., Chen, N., Chen, M., Luo, Y., Qiao, Z., Fan, L., Man, J., Zhang, K., Wang, X., Rong, T., Wang, Z., Liu, F., Zhao, J., Wei, X., Chen, M., Peng, Z., Peng, H., Sun, J., Dong, M. Tags: Copy-number variation Source Type: research
Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners
Conclusion
Participants said it could release some couples requiring reassurance from undergoing unnecessary invasive testing in future pregnancies. However, they regarded mosaicism and PREGCARE as complex concepts to communicate, requiring further training and additional appointment time for pre-test genetic counselling to prepare couples for all the possible outcomes of a personalised risk assessment, including potentially identifying the parental origin of the DNM, and to ensure informed consent. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 21, 2023 Category: Genetics & Stem Cells Authors: Kay, A. C., Wells, J., Hallowell, N., Goriely, A. Tags: Open access Screening Source Type: research
PSMD3 gene mutations cause pathological myopia
Conclusions
A new potential pathogenic gene, PSMD3, in a PM family was identified, and it may be involved in the elongation of AL and the development of PM. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 21, 2023 Category: Genetics & Stem Cells Authors: Chen, J., Lian, P., Zhao, X., Li, J., Yu, X., Huang, X., Chen, S., Lu, L. Tags: Vision science Source Type: research
Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations
Conclusion
This study is the first to report the successful implementation of PGT for monogenic/single gene defects in the parental mosaicism family. Our study suggests that mosaic detection of paternal sperm is warranted in families with recurrent DNMs leading to adverse pregnancy outcomes, and PGT can effectively block the transmission of the pathogenic mutation. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 21, 2023 Category: Genetics & Stem Cells Authors: Xu, N., Shi, W., Cao, X., Zhou, X., Jin, L., Huang, H.-F., Chen, S., Xu, C. Tags: Open access Diagnostics Source Type: research
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants
Conclusion
EPHB4 loss-of-function variants can be associated with HHT-like hepatic abnormalities and should be tested for atypical HHT presentations. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 21, 2023 Category: Genetics & Stem Cells Authors: Guilhem, A., Dupuis-Girod, S., Espitia, O., Riviere, S., Seguier, J., Kerjouan, M., Lavigne, C., Maillard, H., Magro, P., Alric, L., Lipsker, D., Parrot, A., Leguy, V., Vanlemmens, C., Guibaud, L., Vikkula, M., Eyries, M., Valette, P.-J., Giraud, S. Tags: Phenotypes Source Type: research
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2
Conclusion
In all TREM2 cases, multiple atrophy peaks overlapped with the maximum peaks of TREM2 gene expression in crucial brain regions including frontal, temporal, thalamic and basal ganglia areas. These results provide the first report of an FTD presentation potentially associated with the p.H157Y variant with exacerbated neurocognitive impairments. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 21, 2023 Category: Genetics & Stem Cells Authors: Ogonowski, N., Santamaria-Garcia, H., Baez, S., Lopez, A., Laserna, A., Garcia-Cifuentes, E., Ayala-Ramirez, P., Zarante, I., Suarez-Obando, F., Reyes, P., Kauffman, M., Cochran, N., Schulte, M., Sirkis, D. W., Spina, S., Yokoyama, J. S., Miller, B. L., K Tags: Open access Neurogenetics Source Type: research
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Conclusion
This study contributes to understand the complex genetic landscape of JS, explain its variable prevalence in distinct geographical areas and characterise two recurrent hypomorphic variants. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 21, 2023 Category: Genetics & Stem Cells Authors: Serpieri, V., Mortarini, G., Loucks, H., Biagini, T., Micalizzi, A., Palmieri, I., Dempsey, J. C., DAbrusco, F., Mazzotta, C., Battini, R., Bertini, E. S., Boltshauser, E., Borgatti, R., Brockmann, K., D'Arrigo, S., Nardocci, N., Fischetto, R., Agolini, E Tags: Open access Neurogenetics Source Type: research
Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway
Conclusions
This study identified three mastermind-like family gene variants in CH and revealed that both canonical and non-canonical Notch signalling affected thyroid hormone biosynthesis. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 21, 2023 Category: Genetics & Stem Cells Authors: Wu, F.-Y., Yang, R.-M., Zhang, H.-Y., Zhan, M., Tu, P.-H., Fang, Y., Zhang, C.-X., Song, S.-Y., Dong, M., Cui, R.-J., Liu, X.-Y., Yang, L., Yan, C.-Y., Sun, F., Zhang, R.-J., Wang, Z., Liang, J., Song, H.-D., Cheng, F., Zhao, S.-X. Tags: Genotype-phenotype correlations Source Type: research
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum
Conclusion
We suggest TTN to be carefully evaluated in any diagnostic process involving patients with these prenatal signs. This step will be essential to improve diagnostic performance, expand our knowledge and optimise prenatal genetic counselling. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 21, 2023 Category: Genetics & Stem Cells Authors: Di Feo, M. F., Lillback, V., Jokela, M., McEntagart, M., Homfray, T., Giorgio, E., Casalis Cavalchini, G. C., Brusco, A., Iascone, M., Spaccini, L., D'Oria, P., Savarese, M., Udd, B. Tags: Genotype-phenotype correlations Source Type: research
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations
Conclusions
Progressive macular degeneration with a relatively normal peripheral retina and subsequent development of a pseudocoloboma-like appearance were the main clinical features in patients with compound heterozygous RDH12 missense mutations. Genetic testing may be crucial for early diagnosis and may play a key role in the development of future treatment strategies. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 21, 2023 Category: Genetics & Stem Cells Authors: Kuo, C.-Y., Chung, M.-Y., Chen, S.-J. Tags: Open access Genotype-phenotype correlations Source Type: research
