European journal of medical genetics最新文献

{"title":"Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy)","authors":"Jean-Luc Alessandri , Tristan Celse , Marta Spodenkiewicz , Anais Calaya , Coralie Dumont , Marie-Line Jacquemont , Bénédicte Bertaut-Nativel , Brahim Boumahni , Mathilde Rémy , Fanny Ferroul , Suzie Guilly , Thomas Huby , Mireille Irabé , Tiffany Laurens , Patrick Munier , Godelieve Morel , Frédérique Payet , Hanitra Randrianaivo , Bérénice Doray , Jessica Dospeux","doi":"10.1016/j.ejmg.2024.104940","DOIUrl":"10.1016/j.ejmg.2024.104940","url":null,"abstract":"<div><p>Larsen of La Réunion Island syndrome (LRS) is an autosomal recessive condition associated with multiple large joint dislocations, clubfeet, severe dwarfism, and distinctive facial features. LRS is caused by a recurrent homozygous variant in <em>B4GALT7</em> gene with a founder effect in La Réunion population. Proteoglycans (PG) that are a major component of the extracellular matrix, are composed of a core protein connected to a glycosaminoglycans side chain via a tetrasaccharide linker region<em>. B4GALT7</em> encodes galactosyltransferase I, one of the enzymes involved in the biosynthesis of the linker region. Conditions caused by pathogenic biallelic variants in genes implicated in the synthesis of the tetrasaccharide linker of PG are known as linkeropathies.</p><p>Prenatal features are rarely described in this group of chondrodysplasias. We present a series of 12 unpublished patients having LRS and describe the perinatal phenotype. All the patients had a prenatal growth restriction with brevity of limbs. The other features revealed by ultrasounds were increased nuchal translucency at 10–12 weeks of gestation (50 %), feet abnormalities (clubfeet or metatarsus varus) (25 %), dislocation affecting at least one large joint (elbow, knee, wrist) (25 %). Bilateral bowing of femora was noted for two fetuses. Fibular hypertrophy was noted for one fetus. Prenatal helical computed tomography (CT) performed in three pregnancies showed additional data such as bowing of the forearm bones, proximal radio-ulnar synostosis, or dislocation of large joints. Prenatal sonographic and helical CT findings led to the prenatal diagnosis of LRS in four patients. We confirm that the neonatal clinical picture of LRS has an important overlap with that reported in patients with B4GALT7 deficiency outside La Réunion Island and other linkeropathies. The core of the phenotypic spectrum combines low birth height, micromelia, hypermobility, dislocation of at least one large joint, facial features with prominent eyes, microstomia, depressed nasal bridge, and midface hypoplasia. Other clinical features include clubfeet (33%), bifid thumb in one patient, and cardiac abnormalities in two patients. Radiological findings include radio-ulnar synostosis (75%), metaphyseal flaring, precocious carpal ossification, and a Swedish key appearance of the proximal femora. Finally, we also report radiological features rarely described in B4GALT7-linkeropathies, including bowing of the femora and fibular hypertrophy. Our results confirm the phenotypic continuum of LRS within linkeropathies with some additional findings, including a high frequency of clubfeet usually described in B3GALT6-linkeropathies, the presence of congenital heart diseases usually described in B3GAT3-linkeropathies, and a high frequency of metaphyseal flaring usually reported in B3GALT6 or XITLT1-linkeropathies.</p><p>This is the first study that describes the perinatal phenotype in a cohort of patients with LRS. Thi","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"69 ","pages":"Article 104940"},"PeriodicalIF":1.9,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1769721224000326/pdfft?md5=507e128f628c55f8f9741a4ef27e835f&pid=1-s2.0-S1769721224000326-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140862598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel splicing variant in MICAL-1 gene is associated with epilepsy","authors":"Haiyan Yang ,&nbsp;Hongmei Liao ,&nbsp;Siyi Gan ,&nbsp;Ting Xiao ,&nbsp;Liwen Wu","doi":"10.1016/j.ejmg.2024.104946","DOIUrl":"https://doi.org/10.1016/j.ejmg.2024.104946","url":null,"abstract":"<div><p>Germline <em>MICAL1</em> defects have been rarely reported in patients with epilepsy and the genotype-phenotype association remains unclear. In this study, the patient was a 4.6 years old girl who presented with onset of recurrent focal seizures with onset at age 3.4 years. EEG showed abnormal δ-wave activity in the right central and middle temporal lobe. Trio WES showed a novel heterozygous variant c.-43-1G &gt; A in the <em>MICAL1</em> gene in the patient and her normal mother. Minigene verified two abnormal transcripts due to the mutation, which was predicted to interrupt 5′UTR structures of MICAL1. The patient was clinically diagnosed with benign childhood epilepsy with centrotemporal spike (BECTS). As far as we know, this is the first BECTS case with documented <em>MICAL1</em> mutation<em>.</em> Novel <em>MICAL1</em> variant c.-43-1G &gt; A putatively interrupted MICAL1 translation by changing 5′UTR structures and, however, further functioning study is needed.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"69 ","pages":"Article 104946"},"PeriodicalIF":1.9,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1769721224000387/pdfft?md5=72b700457318ae4924367daf66984b90&pid=1-s2.0-S1769721224000387-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140843309","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DPF2-related Coffin-Siris syndrome type 7 in two generations","authors":"Konstantinos Kolokotronis ,&nbsp;Aude-Annick Suter ,&nbsp;Ivan Ivanovski ,&nbsp;Tanja Frey ,&nbsp;Angela Bahr ,&nbsp;Anita Rauch ,&nbsp;Katharina Steindl","doi":"10.1016/j.ejmg.2024.104945","DOIUrl":"10.1016/j.ejmg.2024.104945","url":null,"abstract":"<div><p>To date 11 patients with Coffin-Siris syndrome type 7 (OMIM 618027) have been described since the first literature report. All reported patients carried de novo variants with presumed dominant negative effect, which localized in the PHD1/PHD2 domains of DPF2.</p><p>Here we report on the first familial case of Coffin-Siris syndrome type 7. The index patient presented during the 1st year of life with failure to thrive and ectodermal anomalies. The genetic analysis using whole exome sequencing showed a likely pathogenic missense variant in the PHD1 region. The family analysis showed that the mother as well as the older brother of the index patient also carried the detected <em>DPF2</em> variant in heterozygous state. The mother had a history of school difficulties but no history of failure to thrive and was overall mildly affected. The brother showed developmental delay with autistic features, ectodermal anomalies and overlapping morphologic features but did not have a history of growth failure problems.</p><p>To our knowledge this is the first report of an inherited likely pathogenic variant in <em>DPF2</em>, underlining the variability of the associated phenotype as well as the importance of considering inherited <em>DPF2</em> variants during the variant filtering strategy of whole exome data.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"69 ","pages":"Article 104945"},"PeriodicalIF":1.9,"publicationDate":"2024-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1769721224000375/pdfft?md5=741d8e9bbb54f7f369c3815eb85ba06d&pid=1-s2.0-S1769721224000375-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140862532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mother and daughter with Kenny-Caffey syndrome: the adult phenotype","authors":"L. Tonelli ,&nbsp;M. Sanchini ,&nbsp;A. Margutti ,&nbsp;B. Buldrini ,&nbsp;A. Superti-Furga ,&nbsp;A. Ferlini ,&nbsp;R. Selvatici ,&nbsp;S. Bigoni","doi":"10.1016/j.ejmg.2024.104943","DOIUrl":"https://doi.org/10.1016/j.ejmg.2024.104943","url":null,"abstract":"<div><p>Kenny-Caffey Syndrome (KCS) is a genetic syndrome characterized by growth retardation with short stature, cortical thickening and medullary stenosis of long bones, and hypoparathyroidism with hypocalcemia. KCS and the related but more severe condition osteocraniostenosis are determined by monoallelic variants in the <em>FAM111A</em> gene. Here we describe the KCS phenotype resulting from the monoallelic <em>FAM111A</em> variant p.Y511H in a 31-year-old woman and in her 56-year-old mother, who is one of the oldest affected individuals known so far. To our knowledge, it is also one of the few molecularly confirmed cases of a mother-to-child transmission of KCS.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"69 ","pages":"Article 104943"},"PeriodicalIF":1.9,"publicationDate":"2024-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1769721224000351/pdfft?md5=315048c346c43b0d74615ecb80217881&pid=1-s2.0-S1769721224000351-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140824137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype","authors":"Andre Mégarbané ,&nbsp;Cybel Mehawej ,&nbsp;Daniel Mahfoud ,&nbsp;Eliane Chouery ,&nbsp;Koenraad Devriendt ,&nbsp;Mariam Hijazi ,&nbsp;Seung W. Ryu ,&nbsp;JiHye Kim ,&nbsp;Alisdair McNeill","doi":"10.1016/j.ejmg.2024.104944","DOIUrl":"https://doi.org/10.1016/j.ejmg.2024.104944","url":null,"abstract":"<div><p>Here we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinophalangeal syndrome (TRPS). These features include sparse hair, sparse lateral eyebrows, a bulbous pear shaped nose, a long philtrum, thin lips, small/hypoplastic nails, pes planovalgus; bilateral cone-shaped epiphyses at the proximal 5th phalanx, slender long bones, coxa valga, mild scoliosis, and delayed bone age.</p><p>Given that TRPS had been excluded by a thorough genetic analysis, whole exome sequencing was performed and a heterozygous likely pathogenic variant was identified in the <em>FBXO11</em> gene (NM_001190274.2: c.1781A &gt; G; p. His594Arg), confirming the diagnosis of the newly individualized IDDFBA syndrome: Intellectual Developmental Disorder, dysmorphic Facies, and Behavioral Abnormalities (OMIM# 618,089).</p><p>Our findings further delineate the clinical spectrum linked to <em>FBXO11</em> and highlight the importance of investigating further cases with mutations in this gene to establish a potential genotype-phenotype correlation.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"69 ","pages":"Article 104944"},"PeriodicalIF":1.9,"publicationDate":"2024-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1769721224000363/pdfft?md5=f10415c3c7393a707f92c31d01d7bcdf&pid=1-s2.0-S1769721224000363-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140815820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature","authors":"Fiona Leduc ,&nbsp;Thomas Smol ,&nbsp;Benoit Catteau ,&nbsp;Odile Boute ,&nbsp;Florence Petit","doi":"10.1016/j.ejmg.2024.104942","DOIUrl":"10.1016/j.ejmg.2024.104942","url":null,"abstract":"<div><p>Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly (TEBC) syndrome is a rare autosomal dominant condition, recently linked to the <em>protein kinase D1 (PRKD1)</em> gene. The phenotype of TEBC remains incomplete at this point. Our aim is to improve the characterization of the clinical and molecular aspects of the TEBC syndrome.</p><p>We report on the 8th patient carrying a heterozygous <em>de novo</em> variation of <em>PRKD1</em> c.2134G &gt; A, p. (Val712Met) identified by trio exome sequencing. The proband presents with partial atrioventricular septal defect, brachydactyly, ectodermal dysplasia, telangiectasia that developed in childhood, intellectual disability with microcephaly, multicystic renal dysplasia and moderate hormonal resistance. In view of this 8th description and review of the literature, it appears that neurodevelopmental disorders and microcephaly are frequently associated with <em>PRKD1</em> missense variants, adding to the four main clinical signs described initially in the TEBC syndrome. Further descriptions are required to confirm the observed endocrine and kidney abnormalities. This should contribute to a more comprehensive understanding of the phenotypic spectrum and may help establish genotype-phenotype correlations.</p><p>In the context of genotype-first strategy, accurate patient descriptions are fundamental. Characterization of specific syndromic associations is essential for variant interpretation support and patient follow-up, even in very rare diseases, such as the TEBC syndrome.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"69 ","pages":"Article 104942"},"PeriodicalIF":1.9,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S176972122400034X/pdfft?md5=e519464dc8acb78d9555afe914a6a92d&pid=1-s2.0-S176972122400034X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140793879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From biology to personalized medicine: Recent knowledge in osteosarcoma","authors":"Audrey Mohr ,&nbsp;Maria Eugenia Marques Da Costa ,&nbsp;Olivia Fromigue ,&nbsp;Baptiste Audinot ,&nbsp;Thierno Balde ,&nbsp;Robin Droit ,&nbsp;Samuel Abbou ,&nbsp;Pierre Khneisser ,&nbsp;Pablo Berlanga ,&nbsp;Esperanza Perez ,&nbsp;Antonin Marchais ,&nbsp;Nathalie Gaspar","doi":"10.1016/j.ejmg.2024.104941","DOIUrl":"10.1016/j.ejmg.2024.104941","url":null,"abstract":"<div><p>High-grade osteosarcoma is the most common paediatric bone cancer. More than one third of patients relapse and die of osteosarcoma using current chemotherapeutic and surgical strategies. To improve outcomes in osteosarcoma, two crucial challenges need to be tackled: 1-the identification of hard-to-treat disease, ideally from diagnosis; 2- choosing the best combined or novel therapies to eradicate tumor cells which are resistant to current therapies leading to disease dissemination and metastasize as well as their favorable microenvironment. Genetic chaos, tumor complexity and heterogeneity render this task difficult. The development of new technologies like next generation sequencing has led to an improvement in osteosarcoma oncogenesis knownledge. This review summarizes recent biological and therapeutical advances in osteosarcoma, as well as the challenges that must be overcome in order to develop personalized medicine and new therapeutic strategies and ultimately improve patient survival.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"69 ","pages":"Article 104941"},"PeriodicalIF":1.9,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1769721224000338/pdfft?md5=812709253c44588726d53ae2cef05526&pid=1-s2.0-S1769721224000338-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140772795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood","authors":"Mio Matsumoto ,&nbsp;Momoko Oyake ,&nbsp;Tomoyo Itonaga ,&nbsp;Miwako Maeda ,&nbsp;Soichi Suenobu ,&nbsp;Daichi Sato ,&nbsp;Yoji Sasahara ,&nbsp;Hiroyuki Mishima ,&nbsp;Koh-Ichiro Yoshiura ,&nbsp;Kenji Ihara","doi":"10.1016/j.ejmg.2024.104939","DOIUrl":"https://doi.org/10.1016/j.ejmg.2024.104939","url":null,"abstract":"<div><p>ADH5/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 are often overlooked, particularly in patients with milder symptoms. Here, we describe the clinical course of a girl with a wide spectrum of clinical presentations, including nonspecific hematopoietic disorders, growth retardation, mild developmental delay, amblyopia, hemophagocytic lymphohistiocytosis, and verruca vulgaris, culminating in a genetic diagnosis of AMeD syndrome at 12 years of age. We also summarized the clinical manifestations of previously reported cases of AMeD syndrome. Cumulatively, 13 females and 5 males have been documented, with a cardinal triad of symptoms, aplastic anemia, short stature, and intellectual disability. Additional characteristic observations included pigmentary deposition in approximately half of the cases and skeletal difficulties in one-quarter. We propose that early diagnosis of patients who exhibit relatively mild phenotypes of skin or skeletal lesions is important for managing and improving the quality of life of patients with AMeD syndrome.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"69 ","pages":"Article 104939"},"PeriodicalIF":1.9,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1769721224000314/pdfft?md5=e26b39c9d9568c3b7fe5f76fc2751eba&pid=1-s2.0-S1769721224000314-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140552242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gapsOn behalf of the European calcified tissue society and ERN BOND","authors":"Thomas Funck-Brentano ,&nbsp;M. Carola Zillikens ,&nbsp;Gavin Clunie ,&nbsp;Heide Siggelkow ,&nbsp;Natasha M. Appelman-Dijkstra ,&nbsp;Martine Cohen-Solal","doi":"10.1016/j.ejmg.2024.104936","DOIUrl":"https://doi.org/10.1016/j.ejmg.2024.104936","url":null,"abstract":"<div><p>Osteopetrosis 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 severity and typically diagnosed during adolescence or in young adulthood. Subsequently, the AD form was shown to be a result of mutations in the gene <em>CLCN7</em> encoding for the ClC-7 chloride channel). Traditionally, the diagnosis of osteopetrosis was made on radiograph appearance alone, but recent molecular and genetic advances have enabled a greater fidelity in classification of osteopetrosis subtypes. In the more severe ARO forms (e.g., malignant infantile osteopetrosis MIOP) typical clinical features have severe consequences and often result in death in early childhood. Major complications of ADO are atypical fractures with delay or failure of repair and challenge in orthopedic management. Bone marrow failure, dental abscess, deafness and visual loss are often underestimated and neglected in relation with lack of awareness and expertise. Accordingly, the care of adult patients with osteopetrosis requires a multidisciplinary approach ideally in specialized centers. Apart from hematopoietic stem cell transplantation in certain infantile forms, the treatment of patients with osteopetrosis, has not been standardized and remains supportive. Further clinical studies are needed to improve our knowledge of the natural history, optimum management and impact of osteopetrosis on the lives of patients living with the disorder.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"69 ","pages":"Article 104936"},"PeriodicalIF":1.9,"publicationDate":"2024-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1769721224000284/pdfft?md5=b25a8a93c9f3967f51c7247023844c96&pid=1-s2.0-S1769721224000284-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140543365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant","authors":"Ieva Tėvelytė ,&nbsp;Paulius Bertašius ,&nbsp;Kristina Aleknavičienė ,&nbsp;Rimvydas Jonikas ,&nbsp;Justina Klimaitė ,&nbsp;Edita Jašinskienė ,&nbsp;Rasa Traberg","doi":"10.1016/j.ejmg.2024.104938","DOIUrl":"https://doi.org/10.1016/j.ejmg.2024.104938","url":null,"abstract":"<div><p>Hajdu-Cheney syndrome (HCS) is an extremely rare autosomal dominant skeletal disorder. The prevalence rate of less than 1 case per 1,000,000 newborns and only 50 cases were reported in the medical literature. HCS is characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities. HCS is caused by pathogenic variants in the <em>NOTCH2</em> gene, 34th exon. We report first familial case of HCS caused by likely pathogenic variant of <em>NOTCH2</em> gene c.6449delC, p.(Pro2150LeufsTer5).</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"69 ","pages":"Article 104938"},"PeriodicalIF":1.9,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1769721224000302/pdfft?md5=4849b7130208fd760f1e1699068d035c&pid=1-s2.0-S1769721224000302-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140543340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}