ArticleAmerican journal of human genetics2017
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
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Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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42 citing papers in PubMed, 65 citations in OpenAlex.
- Mitochondria-related gene and protein changes in craniosynostosis: integrated transcriptomics and Fgfr2C361Y/+ cranial suture proteomics.Functional & integrative genomics · 2026Article
- Prenatal genetic diagnostics and postnatal outcomes of fetal auricular dysplasia.Archives of gynecology and obstetrics · 2026Article
- From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family.Protein science : a publication of the Protein Society · 2026Review
- Fontaine progeroid syndrome with neonatal mitochondrial disease.Human genome variation · 2025Article
- High tide or low tide: the transport and metabolism of mitochondrial nucleotides.The Biochemical journal · 2025Review
- Unraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands.Orphanet journal of rare diseases · 2025Article
- Defining the progeria phenome.Aging · 2024Article
- Unravelling the genetic basis for skeletal muscle mitochondrial DNA copy number variations in pigs.Science China. Life sciences · 2024Article
- Adenine nucleotide carrier protein dysfunction in human disease.IUBMB life · 2023Review
- Mitochondrial complex III deficiency drives c-MYC overexpression and illicit cell cycle entry leading to senescence and segmental progeria.Nature communications · 2023Article
- MYC-an emerging player in mitochondrial diseases.Frontiers in cell and developmental biology · 2023Review
- Lipodystrophy-associated progeroid syndromes.Hormones (Athens, Greece) · 2022Review
- Fontaine progeroid syndrome-A case report.Clinical case reports · 2022Article
- A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease.Scientific reports · 2022Article
- Oxidative Stress Related to Plasmalemmal and Mitochondrial Phosphate Transporters in Vascular Calcification.Antioxidants (Basel, Switzerland) · 2022Review
- A rigorousFrontiers in molecular neuroscience · 2022Article
- A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemiaFrontiers in molecular neuroscience · 2022Article
- Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones.Molecular genetics & genomic medicine · 2021Article
- Learning from Yeast about Mitochondrial Carriers.Microorganisms · 2021Review
- Rare and de novo coding variants in chromodomain genes in Chiari I malformation.American journal of human genetics · 2021Article
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Authors and funding
32 authors at 13 institutions in 4 countries.
Nadja EhmkeInstitute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin Institute of Health, 10117 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany. Electronic address: nadja.ehmke@charite.de.
Luitgard Graul-NeumannInstitute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
Lukasz SmoragInstitut für Humangenetik, Universitätsmedizin Göttingen, 37073 Göttingen, Germany.
Rainer KoenigInstitute of Human Genetics, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany.
Lara SegebrechtInstitute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
Pilar MagoulasDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Fernando ScagliaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Esra KilicPediatric Genetics, Pediatric Hematology Oncology Research &Training Hospital, 06110 Ankara, Turkey.
Anna F HennigInstitute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
Nicolai AdolphsDepartment of Craniomaxillofacial Surgery, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
Namrata SahaInstitute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck International Research Network on Aging, 18057 Rostock, Germany.
Beatrix FaulerMax Planck Institute for Molecular Genetics, Microscopy and Cryo-electron Microscopy Group, 14195 Berlin, Germany.
Vera M KalscheuerMax Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany.
Friederike HennigMax Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany.
Janine AltmüllerCologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
Christian NetzerInstitute of Human Genetics, University Hospital Cologne, 50931 Cologne, Germany.
Holger ThieleCologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
Peter NürnbergCologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50674 Cologne, Germany.
Gökhan YigitInstitut für Humangenetik, Universitätsmedizin Göttingen, 37073 Göttingen, Germany.
Marten JägerGenomics Core Facility, Campus Virchow Klinikum, Berlin Institute of Health, 13353 Berlin, Germany.
Jochen HechtCenter for Genomic Regulation, Barcelona Institute for Science and Technology, Dr. Aiguader 88, 08003 Barcelona, Spain; Universitat Pompeu Fabra, 08002 Barcelona, Spain.
Ulrike KrügerGenomics Core Facility, Campus Virchow Klinikum, Berlin Institute of Health, 13353 Berlin, Germany.
Thorsten MielkeMax Planck Institute for Molecular Genetics, Microscopy and Cryo-electron Microscopy Group, 14195 Berlin, Germany.
Peter M KrawitzInstitute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
Denise HornInstitute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
Markus SchuelkeDepartment of Neuropediatrics and NeuroCure Clinical Research Center, Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany.
Stefan MundlosInstitute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
Carlos A BacinoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Penelope E BonnenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Bernd WollnikInstitut für Humangenetik, Universitätsmedizin Göttingen, 37073 Göttingen, Germany.
Björn Fischer-ZirnsakInstitute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
Uwe KornakInstitute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address: uwe.kornak@charite.de.
Max Planck Institute for Molecular Genetics · DECharité - Universitätsmedizin Berlin · DETexas Children's Hospital · USUniversitätsmedizin Göttingen · DEBerlin-Brandenburger Centrum für Regenerative Therapien · DEUniversity of Cologne · DEBarcelona Institute for Science and Technology · ESBaylor College of Medicine · USBerlin Institute of Health at Charité - Universitätsmedizin Berlin · DECologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases · DEGoethe University Frankfurt · DEMinistry of Health · TRUniversity Hospital Cologne · DE
Funding
Personalized Functional Genomics for Mitochondrial Encephalopathy Gene DiscoveryR01NS083726 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BONNEN, PENELOPE E · 2014 to 2025
$6.1MNINDS NIH HHS R01 NS083726
Abstract
Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance. Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS. Two of the girls had pronounced neonatal progeroid features and were initially diagnosed with Wiedemann-Rautenstrauch syndrome. SLC25A24 encodes a mitochondrial inner membrane ATP-Mg/P
Indexed as
Abnormalities, MultipleAdenosine TriphosphateAdolescentAntiportersCalcium-Binding ProteinsChildChild, PreschoolCraniofacial AbnormalitiesCraniosynostosesCutis LaxaDNA, MitochondrialDuctus Arteriosus, PatentExomeFemaleFetal Growth RetardationFibroblastsAdenosine TriphosphateAntiportersATP-Mg-Pi carrier proteins, mitochondriaCalcium-Binding ProteinsDNA, MitochondrialHydrogen PeroxideMitochondrial ProteinsSLC25A24 protein, humancraniosynostosiscutis laxaGorlin-Chaudhry-Moss syndromehypertrichosislipoatrophymitochondrial swellingoxidative stresspremature agingSLC25A24
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