Prevalence of Fabry disease-causing variants in the UK Biobank
Conclusion
Fabry disease-causing GLA variants are more prevalent in an unselected population sample than the reported prevalence of Fabry disease. These are overwhelmingly variants associated with later onset. It is possible the prevalence of later-onset Fabry disease exceeds current estimates. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - March 20, 2023 Category: Genetics & Stem Cells Authors: Gilchrist, M., Casanova, F., Tyrrell, J. S., Cannon, S., Wood, A. R., Fife, N., Young, K., Oram, R. A., Weedon, M. N. Tags: Open access Population genetics Source Type: research
Sequencing of the ZMYND15 gene in a cohort of infertile Chinese men reveals novel mutations in patients with teratozoospermia
Conclusion
Our findings broaden the variant and phenotype spectrum of ZMYND15 in male infertility, and reveal the potential signalling pathway of ZMYND15 regulating spermatogenesis, finally confirming the essential role of ZMYND15 in human fertility. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - March 20, 2023 Category: Genetics & Stem Cells Authors: Wen, Y., Wang, X., Zheng, R., Dai, S., Li, J., Yang, Y., Shen, Y. Tags: Genotype-phenotype correlations Source Type: research
Axenfeld-Rieger syndrome: more than meets the eye
Conclusion
Since clinical features of ARS vary significantly based on the affected gene, it is critical that families are provided with a gene-specific diagnosis, PITX2-related ARS or FOXC1-related ARS. De Hauwere syndrome is proposed to be a FOXC1opathy. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - March 20, 2023 Category: Genetics & Stem Cells Authors: Reis, L. M., Maheshwari, M., Capasso, J., Atilla, H., Dudakova, L., Thompson, S., Zitano, L., Lay-Son, G., Lowry, R. B., Black, J., Lee, J., Shue, A., Kremlikova Pourova, R., Vaneckova, M., Skalicka, P., Jedlickova, J., Trkova, M., Williams, B., Richard, Tags: Open access Genotype-phenotype correlations Source Type: research
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome
Conclusion
VPS35L-associated RSS is a distinct clinical entity with diverse phenotype and severity, with a possible molecular mechanism of hypercholesterolaemia. These findings provide new insight into the essential and distinctive role of Retriever in human development. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - March 20, 2023 Category: Genetics & Stem Cells Authors: Otsuji, S., Nishio, Y., Tsujita, M., Rio, M., Huber, C., Anton-Plagaro, C., Mizuno, S., Kawano, Y., Miyatake, S., Simon, M., van Binsbergen, E., van Jaarsveld, R. H., Matsumoto, N., Cormier-Daire, V., J.Cullen, P., Saitoh, S., Kato, K. Tags: Open access Phenotypes Source Type: research
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity
Conclusions
Our results expand the clinical and allelic spectrum of MRM2 variants. Previously, these descriptions were based on observations in a single patient, diagnosed with mitochondrial DNA depletion syndrome 17, in whom movement disorder was accompanied by recurrent strokes and epilepsy. We also demonstrate a subset of correctly spliced tt-ag MRM2 transcripts, raising the possibility to develop treatment by understanding the disease mechanism. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - March 20, 2023 Category: Genetics & Stem Cells Authors: Shafique, A., Arif, B., Chu, M. L., Moran, E., Hussain, T., Zamora, F. M., Wohler, E., Sobreira, N., Klein, C., Lohmann, K., Naz, S. Tags: Neurogenetics Source Type: research
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities
Conclusion
Self-estimated severity minimally impacts opinions towards reproductive options. Medically assisted reproduction procedures are rarely sought and do not motivate familial communication. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - March 20, 2023 Category: Genetics & Stem Cells Authors: Pierron, L., Tezenas du Montcel, S., Heinzmann, A., Coarelli, G., Heron, D., Heide, S., Herson, A., Hennessy, J., Petit, E., Gargiulo, M., Durr, A. Tags: Neurogenetics Source Type: research
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals
Conclusion
We confirmed that EVC and EVC2 are the major genes involved in the EVC phenotype and highlighted the high prevalence of previously unreported CNVs (Copy Number Variation). (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - March 20, 2023 Category: Genetics & Stem Cells Authors: Aubert-Mucca, M., Huber, C., Baujat, G., Michot, C., Zarhrate, M., Bras, M., Boutaud, L., Malan, V., Attie-Bitach, T., Clinical Contributors, Cormier-Daire, V., Alembik, Alex-Cordier, Aziza, Capri, Caeymaen, Carles, Devillard, Devriendt, Dieux, Dubucs, Ch Tags: Diagnostics Source Type: research
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases
Conclusions
Our results support the application of the PRS313 in risk prediction for genetically uninformative BC families and families with a PV in moderate BC risk genes. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - March 20, 2023 Category: Genetics & Stem Cells Authors: Lakeman, I. M. M., Rodriguez-Girondo, M. D. M., Lee, A., Celosse, N., Braspenning, M. E., van Engelen, K., van de Beek, I., van der Hout, A. H., Gomez Garcia, E. B., Mensenkamp, A. R., Ausems, M. G. E. M., Hooning, M. J., Adank, M. A., Hollestelle, A., Sc Tags: Open access Cancer genetics Source Type: research
Update of penetrance estimates in Birt-Hogg-Dube syndrome
Conclusions
These updated penetrance estimates, based on a large number of families, are important for the genetic counselling and clinical management of BHD syndrome. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - March 20, 2023 Category: Genetics & Stem Cells Authors: Bruinsma, F. J., Dowty, J. G., Win, A. K., Goddard, L. C., Agrawal, P., Attina', D., Bissada, N., De Luise, M., Eisen, D. B., Furuya, M., Gasparre, G., Genuardi, M., Gerdes, A.-M., Hansen, T. V. O., Houweling, A. C., Johannesma, P. C., Lencastre, A., Lim, Tags: Systematic review Source Type: research
Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China
Conclusions
The genetic spectrum of CF in Chinese is unique and quite different from that observed in Caucasians. The geographical distributions of the most frequent variants were reported for the first time. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - February 23, 2023 Category: Genetics & Stem Cells Authors: Shen, Y., Tang, X., Chen, Q., Xu, H., Liu, H., Liu, J., Yang, H., Li, H., Zhao, S. Tags: Open access Biochemical genetics Source Type: research
Identification of RNF13 as cause of recessively inherited ALS in a multi-case pedigree
Conclusion
RNF13 was identified as a novel causative gene of recessively inherited ALS. The gene affects protein homeostasis, which is one of most important components of the pathology of neurodegeneration. The contribution of RNF13 to the aetiology of another neurodegenerative disease is discussed. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - February 23, 2023 Category: Genetics & Stem Cells Authors: Khani, M., Nafissi, S., Shamshiri, H., Moazzeni, H., Taheri, H., Elahi, E. Tags: Novel disease loci Source Type: research
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans
Conclusion
Our findings indicate that defective WNT7B function underlies a form of lung hypoplasia that is associated with the PDAC syndrome, and provide evidence for involvement of the WNT–β-catenin pathway in human lung, tracheal, ocular, cardiac, and renal development. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - February 23, 2023 Category: Genetics & Stem Cells Authors: Bouasker, S., Patel, N., Greenlees, R., Wellesley, D., Fares Taie, L., Almontashiri, N. A., Baptista, J., Alghamdi, M. A., Boissel, S., Martinovic, J., Prokudin, I., Holden, S., Mudhar, H.-S., Riley, L. G., Nassif, C., Attie-Bitach, T., Miguet, M., Delous Tags: Developmental defects Source Type: research
Refining nosology by modelling variation among facial phenotypes: the RASopathies
Conclusions
We established an approach that can be used in the future to quantify variations in facial phenotypes between and within clinical and molecular diagnoses to objectively define and support clinical nosologies. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - February 23, 2023 Category: Genetics & Stem Cells Authors: Matthews, H., Vanneste, M., Katsura, K., Aponte, D., Patton, M., Hammond, P., Baynam, G., Spritz, R., Klein, O. D., Hallgrimsson, B., Peeters, H., Claes, P. Tags: Phenotypes Source Type: research
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping
Conclusion
To the best of our knowledge, this is the first study wherein OGM facilitate the rapid and robust detection of cryptic chromosomal reciprocal translocations in clinical practice. With the excellent performance, our findings suggest that OGM is well qualified as an accurate, comprehensive and first-line method for detecting cryptic BCRs in routine clinical testing. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - February 23, 2023 Category: Genetics & Stem Cells Authors: Zhang, S., Pei, Z., Lei, C., Zhu, S., Deng, K., Zhou, J., Yang, J., Lu, D., Sun, X., Xu, C., Xu, C. Tags: Chromosomal rearrangements Source Type: research
Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study
Conclusion
Both B-JFM screening programmes are highly acceptable to Australian Jewish communities. The programme enabled identification of several individuals who were previously unaware they have a B-JFM, many of whom would have been ineligible for current criteria-based testing in Australia. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - February 23, 2023 Category: Genetics & Stem Cells Authors: Tiller, J. M., Cousens, N. E., Kaur, R., Rowley, S., Ko, Y.-A., Mahale, S., Bankier, A., Meiser, B., Barlow-Stewart, K., Burnett, L., Jacobs, C., James, P., Trainer, A., Neil, S., Campbell, I. G., Andrews, L., Delatycki, M. Tags: Screening Source Type: research
