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.

Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
Eur J Med Genet. 2024 Apr 15;69:104939. doi: 10.1016/j.ejmg.2024.104939. Online ahead of print.ABSTRACTADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which ar...
Source: European Journal of Medical Genetics - April 13, 2024 Category: Genetics & Stem Cells Authors: Mio Matsumoto Momoko Oyake Tomoyo Itonaga Miwako Maeda Soichi Suenobu Daichi Sato Yoji Sasahara Hiroyuki Mishima Koh-Ichiro Yoshiura Kenji Ihara Source Type: research

Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gapsOn behalf of the European calcified tissue society and ERN BOND
Eur J Med Genet. 2024 Apr 7;69:104936. doi: 10.1016/j.ejmg.2024.104936. Online ahead of print.ABSTRACTOsteopetrosis refers to a group of related rare bone diseases characterized by a high bone mass due to impaired bone resorption by osteoclasts. Despite the high bone mass, skeletal strength is compromised and the risk of fracture is high, particularly in the long bones. Osteopetrosis was classically categorized by inheritance pattern into autosomal recessive forms (ARO), which are severe and diagnosed within the first years of life, an intermediate form and an autosomal dominant (ADO) form; the latter with variable clinica...
Source: European Journal of Medical Genetics - April 9, 2024 Category: Genetics & Stem Cells Authors: Thomas Funck-Brentano M Carola Zillikens Gavin Clunie Heide Siggelkow Natasha M Appelman-Dijkstra Martine Cohen-Solal Source Type: research

Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gapsOn behalf of the European calcified tissue society and ERN BOND
Eur J Med Genet. 2024 Apr 7:104936. doi: 10.1016/j.ejmg.2024.104936. Online ahead of print.ABSTRACTOsteopetrosis refers to a group of related rare bone diseases characterized by a high bone mass due to impaired bone resorption by osteoclasts. Despite the high bone mass, skeletal strength is compromised and the risk of fracture is high, particularly in the long bones. Osteopetrosis was classically categorized by inheritance pattern into autosomal recessive forms (ARO), which are severe and diagnosed within the first years of life, an intermediate form and an autosomal dominant (ADO) form; the latter with variable clinical s...
Source: European Journal of Medical Genetics - April 9, 2024 Category: Genetics & Stem Cells Authors: Thomas Funck-Brentano M Carola Zillikens Gavin Clunie Heide Siggelkow Natasha M Appelman-Dijkstra Martine Cohen-Solal Source Type: research

The history of the international rare diseases research consortium (IRDiRC) and its conferences
Eur J Med Genet. 2024 Apr 5:104935. doi: 10.1016/j.ejmg.2024.104935. Online ahead of print.ABSTRACTIndividual researchers and consortia have been studying rare diseases for several decades. However, the rare disease community can be very fragmented mainly due to the large heterogeneity of rare diseases. Indeed, for many diseases, there is a very limited amount of researchers and resources available. Concerted efforts to organize the rare disease community and funding were emerging in several countries but so far, international coordination was rather limited. The International Rare Diseases Research Consortium (IRDiRC) aim...
Source: European Journal of Medical Genetics - April 7, 2024 Category: Genetics & Stem Cells Authors: David A Pearce Source Type: research

First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant
We report first familial case of HCS caused by likely pathogenic variant of NOTCH2 gene c.6449delC, p.(Pro2150LeufsTer5).PMID:38580081 | DOI:10.1016/j.ejmg.2024.104938 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - April 5, 2024 Category: Genetics & Stem Cells Authors: Ieva Tevelyte Paulius Bertasius Kristina Aleknaviciene Rimvydas Jonikas Justina Klimaite Edita Jasinskiene Rasa Traberg Source Type: research

Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants
Eur J Med Genet. 2024 Apr 2;69:104937. doi: 10.1016/j.ejmg.2024.104937. Online ahead of print.ABSTRACTTricho-rhino-phalangeal syndrome (TRPS) is a rare malformation syndrome characterized by distinctive facial, ectodermal, and skeletal features. TRPS is divided into TRPS type I/III caused by pathogenic variants in TRPS1 and TRPS type II caused by contiguous gene deletions also spanning EXT1 and RAD21. Due to its rarity, knowledge of the clinical course of TRPS remains limited. Therefore, we collected and characterized a case series of 15 TRPS type I patients (median age at diagnosis 15 [interquartile range: 10-18] years, 1...
Source: European Journal of Medical Genetics - April 4, 2024 Category: Genetics & Stem Cells Authors: Laura Krogh Herlin Morten Krogh Herlin Jenny Blechingberg Kirsten R ønholt Lise Graversen Sigrun A J Schmidt Mette Warming J ørgensen Michel Bach Hellfritzsch Jannie Dahl Hald Signe Sparre Beck-Nielsen Hans Gj ørup Brian Nauheimer Andersen Pernille Ax Source Type: research

Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants
Eur J Med Genet. 2024 Apr 2:104937. doi: 10.1016/j.ejmg.2024.104937. Online ahead of print.ABSTRACTTricho-rhino-phalangeal syndrome (TRPS) is a rare malformation syndrome characterized by distinctive facial, ectodermal, and skeletal features. TRPS is divided into TRPS type I/III caused by pathogenic variants in TRPS1 and TRPS type II caused by contiguous gene deletions also spanning EXT1 and RAD21. Due to its rarity, knowledge of the clinical course of TRPS remains limited. Therefore, we collected and characterized a case series of 15 TRPS type I patients (median age at diagnosis 15 [interquartile range: 10-18] years, 11 f...
Source: European Journal of Medical Genetics - April 4, 2024 Category: Genetics & Stem Cells Authors: Laura Krogh Herlin Morten Krogh Herlin Jenny Blechingberg Kirsten Marthine R ønholt Stausholm Lise Graversen Sigr ún Alba Jóhannesdóttir Schmidt Mette Warming J ørgensen Michel Bach Hellfritzsch Jannie Dahl Hald Signe Sparre Beck-Nielsen Hans Gj øru Source Type: research

Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta
CONCLUSIONS: This study helps to show that a customized gene panel is the first-line method of choice for studying patients with ADPKD followed by WES which increased the detection of variants present in the PKD1 pseudogene region. A founder variant in the PKD2 gene was identified in our Maltese cohort with ADPKD. Phenotype of patients with ADPKD is significantly related to the genotype confirming the important role of molecular investigations in the diagnosis and prognosis of polycystic kidney disease. Moreover, the findings also highlight the variability in the clinical phenotype and indicate that other factors including...
Source: European Journal of Medical Genetics - March 27, 2024 Category: Genetics & Stem Cells Authors: Natalie Ciantar Graziella Zahra Julian Delicata Fiona Sammut Jean Calleja-Agius Emanuel Farrugia Edith Said Source Type: research