European Journal of Medical Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China
CONCLUSION: The study's patients all presented with classic symptoms of MPS VII due to β-glucuronidase deficiency, with three new pathogenic mutations identified in the GUSB gene. Genetic counseling and prenatal testing were highlighted as crucial for disease prevention.PMID:38442846 | DOI:10.1016/j.ejmg.2024.104933 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - March 5, 2024 Category: Genetics & Stem Cells Authors: Xueying Su Xiaoyuan Zhao Xi Yin Li Liu Yonglan Huang Chunhua Zeng Xiuzhen Li Wen Zhang Source Type: research

A systematic review of the assessment of the clinical utility of genomic sequencing: Implications of the lack of standard definitions and measures of clinical utility
CONCLUSION: Clinical utility is used to guide policy and practice decisions about test use. The lack of a standard definition of clinical utility of ES/GS may lead to under- or overestimations of clinical utility, complicating policymaking and raising ethical issues.PMID:38432472 | DOI:10.1016/j.ejmg.2024.104925 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - March 3, 2024 Category: Genetics & Stem Cells Authors: Claudia Azuelos Marc-Antoine Marquis Anne-Marie Laberge Source Type: research

Disclosure of genetic risk to family members: A qualitative study on healthcare professionals' perceived roles and responsibilities
Eur J Med Genet. 2024 Feb 29:104931. doi: 10.1016/j.ejmg.2024.104931. Online ahead of print.ABSTRACTThis paper presents the perspectives of healthcare professionals regarding their roles and responsibilities in supporting patients with the disclosure of genetic risk to their families. The study involved eight focus groups and two individual interviews with 34 healthcare professionals working in medical genetics services across Portugal. The data were analyzed thematically, resulting in three primary themes: i) informing patients about the risk to relatives; ii) ensuring patient confidentiality; and iii) encouraging family ...
Source: European Journal of Medical Genetics - March 2, 2024 Category: Genetics & Stem Cells Authors: Álvaro Mendes Milena Paneque Jorge Sequeiros Source Type: research

Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies
This study aimed to assess the prevalence of ligamentous laxity in children with ACH through standardized tools, the Beighton scale and its modified version for preschool-age children. A total of 33 children (mean age 6.4 ± 3.2 years; age range 1-12.5 years) diagnosed with ACH by the demonstration of a pathogenic variant in the FGFR3 gene and 33 age- and sex-matched healthy controls were included in the study. Both ligamentous laxity assessment and neurological examinations were performed; medical history was also collected from caregivers. Children with ACH showed a 2 times higher risk of ligamentous laxity than the grou...
Source: European Journal of Medical Genetics - March 1, 2024 Category: Genetics & Stem Cells Authors: Domenico Marco Romeo Virginia Pironi Chiara Velli Elisabetta Sforza Donato Rigante Valentina Giorgio Chiara Leoni Cristina De Rose Eliza Maria Kuczynska Domenico Limongelli Roberta Ruiz Cristiana Agazzi Eugenio Mercuri Giuseppe Zampino Roberta Onesimo Source Type: research

Prenatal onset GAPO syndrome with a novel ANTXR1 variant in an Indian child: Expansion of the phenotype & amp; literature review
We report GAPO syndrome in a 3.75 year old Indian female child, who presented with some unique features such as sagittal craniosynostosis with scaphocephaly & bilateral choroid plexus cysts, alongside the core phenotype. We also report a novel frameshift variant in our patient & offer first evidence for the prenatal onset of some features.PMID:38423276 | DOI:10.1016/j.ejmg.2024.104929 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 29, 2024 Category: Genetics & Stem Cells Authors: Surya Balakrishnan Iravathy Goud Madhavi Latha Teegala Source Type: research

Two siblings with PEX11B-related peroxisome biogenesis disorder
Eur J Med Genet. 2024 Feb 27:104928. doi: 10.1016/j.ejmg.2024.104928. Online ahead of print.ABSTRACTThe PEX11β gene contains four exons and encodes peroxisomal membrane protein 11β, which is involved in peroxisome proliferation and division. Pathogenic variants in this gene result in a rare genetic disorder with autosomal recessive inheritance called peroxisome biogenesis disorder 14B (MIM: 614920). Here, we report two affected siblings with a novel variant (NM_003846: c.11G > A, p. Trp4Ter) in the PEX11β gene that was identified by whole exome sequencing and confirmed by Sanger sequencing. The proband is a 22-year-o...
Source: European Journal of Medical Genetics - February 29, 2024 Category: Genetics & Stem Cells Authors: Somayeh Khoddam Neda Kamal Amirmasoud Shiri Hossein Jafari Khamirani Jamal Manoochehri Mehdi Dianatpour Seyed Mohammad Bagher Tabei Seyed Alireza Dastgheib Source Type: research

Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study
CONCLUSION: The present study identified two novel MAN2B1 variants. An evaluation of the long-term outcome of alpha-mannosidosis, in which the early initiation of enzyme replacement therapy (ERT) may lead to a better clinical outcome, can permit a better analysis of the effect of ERT on the natural progression of the disease.PMID:38382588 | DOI:10.1016/j.ejmg.2024.104927 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 21, 2024 Category: Genetics & Stem Cells Authors: Engin K öse Çiğdem Seher Kasapkara Asl ı İnci Y ılmaz Yıldız İlknur Sürücü Kara Ay ça Burcu Kahraman Leyla T ümer Ali Dursun Fatma Tuba Emino ğlu Source Type: research