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A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis
In this study, we report on a 14-year-old girl patient with diaphanospondylodysostosis harbouring a novel BMPER mutation. The patient presented with severe scoliosis and severely hypoplastic/aplastic distal phalanges of the fingers and toes, findings yet hitherto not described in this syndrome.PMID:38355094 | DOI:10.1016/j.ejmg.2024.104924 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 14, 2024 Category: Genetics & Stem Cells Authors: Tu ğba Daşar Adalet El çin Yıldız G ökhan Demirkıran G ülen Eda Utine Pelin Özlem Şimşek Kiper Source Type: research

Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder
Eur J Med Genet. 2024 Feb 10;68:104923. doi: 10.1016/j.ejmg.2024.104923. Online ahead of print.ABSTRACTPathogenic variants in BRPF1 cause intellectual disability, ptosis and facial dysmorphism. Speech and language deficits have been identified as a manifestation of BRPF1-related disorder but have not been systematically characterized. We provide a comprehensive delineation of speech and language abilities in BRPF1-related disorder and expand the phenotype. Speech and language, and health and medical history were assessed in 15 participants (male = 10, median age = 7 years 4 months) with 14 BRPF1 variants. Language disorder...
Source: European Journal of Medical Genetics - February 12, 2024 Category: Genetics & Stem Cells Authors: Lottie D Morison Olivia Van Reyk Emma Baker Lyse Ruaud Nathalie Couque Alain Verloes David J Amor Angela T Morgan Source Type: research

TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant
We report a novel missense variant in TBX5 in a family with an atypical Holt-Oram syndrome phenotype.PMID:38336121 | DOI:10.1016/j.ejmg.2024.104920 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 9, 2024 Category: Genetics & Stem Cells Authors: Anne Kathrine M øller Nielsen Anna Maria Dehn Vibeke Hjortdal Lars Allan Larsen Source Type: research

Rapid exome sequencing for children with severe acute encephalopathy - A case series
Eur J Med Genet. 2024 Feb 5;68:104918. doi: 10.1016/j.ejmg.2024.104918. Online ahead of print.ABSTRACTIncreasingly, next-generation sequencing (NGS) is becoming an invaluable tool in the diagnosis of unexplained acute neurological disorders, such as acute encephalopathy/encephalitis. Here, we describe a brief series of pediatric patients who presented at the pediatric intensive care unit with severe acute encephalopathy, initially suspected as infectious or inflammatory but subsequently diagnosed with a monogenic disorder. Rapid exome sequencing was performed during the initial hospitalization of three unrelated patients, ...
Source: European Journal of Medical Genetics - February 7, 2024 Category: Genetics & Stem Cells Authors: Clair Habib Tamar Paperna Rinat Zaid Sarit Ravid Josef Ben Ari Galit Tal Karin Weiss Tova Hershkovitz Source Type: research

Altered peripheral blood leukocyte subpopulations, function, and gene expression in children with Down syndrome: implications for respiratory tract infection
CONCLUSIONS: Increased susceptibility to severe and chronic infection in children with DS may result from inappropriate numbers and subtypes of immune cells that are phenotypically and functionally altered due to trisomy 21 associated interferonopathy.PMID:38325643 | DOI:10.1016/j.ejmg.2024.104922 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 7, 2024 Category: Genetics & Stem Cells Authors: Kelley L Colvin Kristine Wolter-Warmerdam Francis Hickey Michael E Yeager Source Type: research

Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries
This study demonstrates that an appropriate cut-off value is an important prerequisite for establishing a semi-quantitative method to determine the SMN1 copy numbers. Compared to conventional methods, our ddPCR assay is low-cost, highly accurate, and has full potential for application in population spinal muscular atrophy carriers screening.PMID:38325644 | DOI:10.1016/j.ejmg.2024.104921 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 7, 2024 Category: Genetics & Stem Cells Authors: Yu Jiang Zhenyu Luo Wenrong Wang Xingxiu Lu ZhongMin Xia Jieqiong Xie Mei Lu Lili Wu Yulin Zhou Qiwei Guo Source Type: research

Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa
In conclusion, treatment with asfotase alfa, halted rapid radiological bone deterioration after bilateral intramedullary femoral pen placement and strongly increased quality of life, marked by rapid disappearance of neuropathic pain, reduction in headaches and musculoskeletal pains, and enhanced muscle strength and mobility. The quick and almost complete disappearance of neuropathic pain and headache suggests a relation with disturbed levels of metabolites in HPP.PMID:38325645 | DOI:10.1016/j.ejmg.2024.104915 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 7, 2024 Category: Genetics & Stem Cells Authors: Zografia Zervou Roel Plooij Evert F S van Velsen Remco G M Timmermans Serwet Demirdas M Carola Zillikens Source Type: research

Recurrent MECR R258W causes adult-onset optic atrophy: A case report
Eur J Med Genet. 2024 Feb 1;68:104917. doi: 10.1016/j.ejmg.2024.104917. Online ahead of print.ABSTRACTMECR-related neurologic disorder, also known as mitochondrial enoyl CoA reductase protein-associated neurodegeneration (MEPAN) or dystonia with optic atrophy and basal ganglia abnormalities in childhood (MIM: #617282), is an autosomal recessive inherited disease characterized by a progressive childhood-onset movement disorder and optic atrophy. Here we report a 19-year-old male, presented with progressive visual failure, nystagmus, and right orbital pain, with no history of movement or eye disorder in his childhood. His vi...
Source: European Journal of Medical Genetics - January 31, 2024 Category: Genetics & Stem Cells Authors: Nan Jia Shuiqing Yu Geng Zhang Lin Li Jiawei Wang Chuntao Lai Source Type: research

ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions
Eur J Med Genet. 2024 Feb 1;68:104916. doi: 10.1016/j.ejmg.2024.104916. Online ahead of print.ABSTRACTThere is no universally accepted definition for rare diseases: in Europe a disease is considered to be rare when affecting fewer than 1 in 2000 people. European Reference Networks (ERNs) have been the concrete response to address the unmet needs of rare disease patients and many pan-European issues in the field, reducing inequities, and significantly increasing accessibility to high-quality healthcare across Europe. ERNs are virtual networks, involving centres and patient representatives with the general scope to facilitat...
Source: European Journal of Medical Genetics - January 31, 2024 Category: Genetics & Stem Cells Authors: Lorena Casareto Natasha M Appelman-Dijkstra Maria Luisa Brandi Roland Chapurlat Val érie Cormier-Daire Neveen A T Hamdy Karen E Heath Joachim Horn Giovanna Mantovani Klaus Mohnike S érgio Bernardo Sousa Andr é Travessa Lena Lande Wekre M Carola Zillike Source Type: research

X-linked hypophosphatemia: The value of feedback focus groups to assess patient and caregiver needs
Eur J Med Genet. 2024 Feb 1;68:104912. doi: 10.1016/j.ejmg.2024.104912. Online ahead of print.ABSTRACTX-linked hypophosphatemia (XLH) is a rare, multi-systemic, invalidating disease requiring a multi-disciplinary approach. No specific action in XLH, neither for the patients' specific needs nor for the methodology for the evaluation of these were found. Thus, to identify the needs of XLH patients and their caregivers, we organised focus groups in our reference centre with a view to build educational sessions. Focus groups including either XLH children, XLH adults, or caregivers ran in parallel. Each group was led by a perso...
Source: European Journal of Medical Genetics - January 31, 2024 Category: Genetics & Stem Cells Authors: Estelle Wagner Aur élia Bertholet-Thomas M élanie Romier Laure Loin Sandrine Lemoine Emmanuelle Vignot Sacha Flammier Charlotte Garnier Aur élie De-Mul Corinne Feutrier Sandrine Juillard B éatrice Thivichon-Prince Guillemette Lienhart Justine Bacchett Source Type: research

Pachydysostosis of the fibula in a case of familial adenomatous polyposis
We report a 17-year-old male, who presented with a non-progressive bowing of the right leg detected at 18 months of age caused by a fibula malformation (later characterized as pachydysostosis) and a large exophytic osteoma of the left radius, noticed at the age of 15 years, without gastrointestinal symptoms. There was no relevant family history. Detailed characterisation revealed multiple osteomas, skin lesions and dental abnormalities, raising the hypothesis of FAP. This diagnosis was confirmed by genetic testing [c.4406_4409dup p.(Ala1471Serfs*17) de novo mutation in the APC gene] and endoscopic investigation (multiple a...
Source: European Journal of Medical Genetics - January 29, 2024 Category: Genetics & Stem Cells Authors: Daniela Oliveira Sofia Maia In ês Balacó Paulo Coelho Susana Almeida Margarida Ven âncio Jorge Saraiva Gen Nishimura S érgio B Sousa Source Type: research

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families
We report on five unrelated families with 8 affected individuals in which the probands presented with varying combinations of ectodermal dysplasia, cleft lip/palate, split-hand/foot malformation, lacrimal duct obstruction, and ankyloblepharon filiforme adnatum. The clinical diagnosis involved AEC syndrome (2 patients), EEC3 syndrome (2 patients), and a yet hitherto unclassified TP63-related disorder. Sanger sequence analysis of the TP63 gene was performed revealing five different variants among which four were novel and three were de novo. The identificated TP63 variants co-segregated with the other affected individuals in...
Source: European Journal of Medical Genetics - January 28, 2024 Category: Genetics & Stem Cells Authors: Merve So ğukpınar Eda Utine Koray Boduro ğlu Pelin Özlem Şimşek-Kiper Source Type: research

Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?
Eur J Med Genet. 2024 Jan 21;68:104910. doi: 10.1016/j.ejmg.2024.104910. Online ahead of print.ABSTRACTLenz-Majewski hyperostotic dwarfism (LMHD) is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, dysmorphic facial features, brachydactyly, symphalangism and cutis laxa. Nineteen cases have been reported in the literature so far, eleven of them with PTDSS1 mutations. Although studies have had clinically similar findings, in some cases the authors have reported even rarer features such as hydrocephalus, facial paralysis, and cleft palate. We, hereby, report the case of the first patient w...
Source: European Journal of Medical Genetics - January 23, 2024 Category: Genetics & Stem Cells Authors: Fayize Maden Bedel Özgür Balasar Selma Erol Aytekin Sevgi Kele ş H üseyin Çaksen Source Type: research

Evaluating ClinGen variant curation expert panels' application of PVS1 code
CONCLUSIONS: It is difficult to understand the intricacies of the predictive data(PVS1), which often requires expert-level knowledge of disease/gene. The VCEP criteria specifications for the predictive evidence play an important role in making it more accessible for the curators to apply the predictive data by providing details concerning this complex criteria. Despite this, we believe there is a need for more guidance on standardizing this process and ensuring consistency in the application of this predictive evidence.PMID:38199457 | DOI:10.1016/j.ejmg.2024.104909 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - January 10, 2024 Category: Genetics & Stem Cells Authors: Xiaoyan Wang Haibo Li Haiyan Luo Yongyi Zou Haoxian Li Yayun Qin Jieping Song Source Type: research

Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression
Eur J Med Genet. 2023 Dec;66(12):104869. doi: 10.1016/j.ejmg.2023.104869. Epub 2023 Oct 29.ABSTRACTDespite advances in the clinical management of childhood acute myeloid leukemia (AML) during the last decades, outcome remains fatal in approximately one third of patients. Primary chemoresistance, relapse and acute and long-term toxicities to conventional myelosuppressive therapies still constitute significant challenges and emphasize the unmet need for effective targeted therapies. Years of scientific efforts have translated into extensive insights on the heterogeneous spectrum of genetics and oncogenic signaling pathways o...
Source: European Journal of Medical Genetics - January 4, 2024 Category: Genetics & Stem Cells Authors: Kristian L Juul-Dam Neerav N Shukla Todd M Cooper Branko Cuglievan Olaf Heidenreich E Anders Kolb Milad Rasouli Henrik Hasle C Michel Zwaan Source Type: research