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 and molecular features of four families with CLDN10 associated HELIX syndrome
Eur J Med Genet. 2023 Nov 18:104886. doi: 10.1016/j.ejmg.2023.104886. Online ahead of print.ABSTRACTBiallelic pathogenic variants in CLDN10 cause the very rare and distinct multiplex epithelium dysfunction manifested by hypohidrosis and electrolyte imbalance (HELIX) syndrome. HELIX patients often present with heat intolerance and reduced tear secretion. Here, we report on eight new patients (four families) who presented soon after birth with fine scales in the palms and soles and hypohidrosis that was associated with high body temperature. Exome sequencing identified a novel homozygous pathogenic variant in CLDN10 in one f...
Source: European Journal of Medical Genetics - November 20, 2023 Category: Genetics & Stem Cells Authors: Ahmad Qudair Maged Hussein Mohammed Alowain Zuhair Nasser Al-Hassnan Abdullah Alfaifi Abdullah Alfalah Mashael Al-Qahtani Fowzan S Alkuraya Source Type: research

Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review
CONCLUSIONS: For the first time this study describes a later-onset phenotype of MLYCDD patients, characterized by single-organ involvement, mildly reduced enzyme activity, and a benign clinical course.PMID:37979716 | DOI:10.1016/j.ejmg.2023.104885 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - November 18, 2023 Category: Genetics & Stem Cells Authors: Emanuele Monda Athanasios Bakalakos Petros Syrris Saidi Mohiddin Sacha Ferdinandusse Elaine Murphy Perry Mark Elliott Source Type: research

Response to the comment on Diderich et al. "The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis" (EJMG 66(10),104844)
Eur J Med Genet. 2023 Nov 14:104884. doi: 10.1016/j.ejmg.2023.104884. Online ahead of print.NO ABSTRACTPMID:37972850 | DOI:10.1016/j.ejmg.2023.104884 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - November 16, 2023 Category: Genetics & Stem Cells Authors: Karin E M Diderich Jasmijn E Klapwijk Vyne van der Schoot Myrthe van den Born Martina Wilke Marieke Joosten Kyra E Stuurman Lies H Hoefsloot Diane Van Opstal Hennie T Br üggenwirth Malgorzata I Srebniak Source Type: research

National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark
Eur J Med Genet. 2023 Nov 13:104872. doi: 10.1016/j.ejmg.2023.104872. Online ahead of print.ABSTRACTGenetic conditions are often familial, but not all relatives receive counseling from the same institution. It is therefore necessary to ensure consistency in variant interpretation, counseling practices, and clinical follow up across health care providers. Furthermore, as new possibilities for gene-specific treatments emerge and whole genome sequencing becomes more widely available, efficient data handling and knowledge sharing between clinical laboratory geneticists and medical specialists in clinical genetics are increasin...
Source: European Journal of Medical Genetics - November 15, 2023 Category: Genetics & Stem Cells Authors: Dorte L Lildballe Anja Lisbeth Frederiksen Bitten Sch önewolf-Greulich Charlotte Brasch-Andersen Charlotte Kvist Lautrup Helena G ásdal Karstensen Inge S økilde Pedersen Lone Sunde Lotte Risom Maria Rasmussen Mette Bertelsen Mette Klarskov Andersen Nan Source Type: research

Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome
Eur J Med Genet. 2023 Nov 7:104882. doi: 10.1016/j.ejmg.2023.104882. Online ahead of print.ABSTRACTHigh-throughput sequencing has identified vast numbers of variants in genetic disorders. However, the significance of variants at the exon-intron junction remains controversial. Even though most cases of Mowat-Wilson syndrome (MOWS) are caused by heterozygous loss-of-function variants in ZEB2, the pathogenicity of variants at exon-intron junction is often indeterminable. We identified four intronic variants in 5/173 patients with clinical suspicion for MOWS, and evaluated their pathogenicity by in vitro analyses. The minigene...
Source: European Journal of Medical Genetics - November 9, 2023 Category: Genetics & Stem Cells Authors: Yasuyo Suzuki Noriko Nomura Kenichiro Yamada Yasukazu Yamada Ayumi Fukuda Kyoko Hoshino Shinpei Abe Kenji Kurosawa Mie Inaba Seiji Mizuno Nobuaki Wakamatsu Shin Hayashi Source Type: research

Letter to the Editor: Comment to Diderich et al. "The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis" (EJMG 66(10),104844)
Eur J Med Genet. 2023 Nov 8;67:104883. doi: 10.1016/j.ejmg.2023.104883. Online ahead of print.NO ABSTRACTPMID:37944855 | DOI:10.1016/j.ejmg.2023.104883 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - November 9, 2023 Category: Genetics & Stem Cells Authors: Fang Chen Dong-Zhi Li Source Type: research

Letter to the Editor: Comment to Diderich et al. "The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis" (EJMG 66(10),104844)
Eur J Med Genet. 2023 Nov 7:104883. doi: 10.1016/j.ejmg.2023.104883. Online ahead of print.NO ABSTRACTPMID:37944855 | DOI:10.1016/j.ejmg.2023.104883 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - November 9, 2023 Category: Genetics & Stem Cells Authors: Fang Chen Dong-Zhi Li Source Type: research