Article
Dentistry, Oral Surgery & Medicine
Kanokwan Sriwattanapong, Issree Nitayavardhana, Thanakorn Theerapanon, Sermporn Thaweesapphithak, Pintu-On Chantarawaratit, Rakkierti Garuyakich, Chureerat Phokaew, Thantrira Porntaveetus, Vorasuk Shotelersuk
Summary: The study characterized the phenotypes, tooth properties, and genotypes of ADHCAI, finding that the FAM83H mutation in ADHCAI has a common ancestry and exhibits phenotypic heterogeneity influenced by age.
Article
Genetics & Heredity
Katalin L. M. L. Hetzelt, Martin Winterholler, Frank Kerling, Christophe Rauch, Arif B. Ekici, Andreas Winterpacht, Georgia Vasileiou, Steffen Uebe, Christian T. Thiel, Cornelia Kraus, Andre Reis, Christiane Zweier
Summary: Cohen-Gibson syndrome is a rare genetic disorder caused by mutations in the EED gene, characterized by overgrowth and intellectual disability. This study identified a new heterozygous missense variant responsible for the syndrome, expanding the clinical spectrum and demonstrating clinical variability among patients.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Letter
Genetics & Heredity
Paolo Zanoni, Katharina Steindl, Anita Rauch
GENETICS IN MEDICINE
(2022)
Article
Genetics & Heredity
Lucia Laugwitz, Annette Seibt, Diran Herebian, Susana Peralta, Imke Kienzle, Rebecca Buchert, Ruth Falb, Darja Gauck, Amelie Muller, Mona Grimmel, Stefanie Beck-Woedel, Jan Kern, Karim Daliri, Pegah Katibeh, Katharina Danhauser, Steffen Leiz, Viola Alesi, Fabian Baertling, Gessica Vasco, Robert Steinfeld, Matias Wagner, Ahmet Okay Caglayan, Hakan Gumus, Margit Burmeister, Ertan Mayatepek, Diego Martinelli, Parag Mohan Tamhankar, Vasundhara Tamhankar, Pascal Joset, Katharina Steindl, Anita Rauch, Penelope E. Bonnen, Tawfiq Froukh, Samuel Groeschel, Ingeborg Krageloh-Mann, Tobias B. Haack, Felix Distelmaier
Summary: Human coenzyme Q4 (COQ4) is crucial for coenzyme Q(10) (CoQ(10)) biosynthesis and pathogenic variants in COQ4 cause childhood-onset neurodegeneration. This study characterized the clinical spectrum of COQ4 deficiency and identified phenotypic subtypes, with cell-based studies supporting the pathogenic characteristics of COQ4 variants. Due to the insufficient clinical response to oral CoQ(10) supplementation, alternative treatment strategies are needed.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Cell & Tissue Engineering
Laura Krumm, Tatyana Pozner, Johanna Kaindl, Martin Regensburger, Claudia Gunther, Soeren Turan, Reza Asadollahi, Anita Rauch, Beate Winner
Summary: Bi-allelic variants in the SPG11 gene can lead to rare motor neuron disorders, and the lack of antibodies against SPG11 poses a significant challenge in related research. A CRISPR/Cas9 mediated approach was used to generate and validate an endogenously tagged SPG11- human iPSC line with an HA tag at the C-terminus, demonstrating multi-lineage differentiation potential and holding promise for studying spatacsin's role and SPG11-associated pathogenesis.
STEM CELL RESEARCH
(2021)
Article
Genetics & Heredity
Melissa Rieger, Matthias Tuerk, Cornelia Kraus, Steffen Uebe, Arif B. Ekici, Mandy Krumbiegel, Cord Huchzermeyer, Andre Reis, Christian Thiel
Summary: Steroid 5 alpha-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare metabolic disease characterized by psychomotor disability and eye malformations. This study reports the case of twins with SRD5A3-CDG and identifies a new variant. The study also uncovers a rare symptom associated with SRD5A3-CDG.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2022)
Article
Genetics & Heredity
Alban Ziegler, Katharina Steindl, Ashleigh S. Hanner, Rajesh Kumar Kar, Clement Prouteau, Anne Boland, Jean Francois Deleuze, Christine Coubes, Stephane Bezieau, Sebastien Kury, Isabelle Maystadt, Morgane Le Mao, Guy Lenaers, Benjamin Navet, Laurence Faivre, Frederic Tran Mau-Them, Paolo Zanoni, Wendy K. Chung, Anita Rauch, Dominique Bonneau, Myung Hee Park
Summary: Rare bi-allelic variants in the DOHH gene are associated with a neurodevelopmental disorder, and biochemical evidence confirms insufficient DOHH activity.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Genetics & Heredity
Geeske M. van Woerden, Richelle Senden, Charlotte de Konink, Rossella A. Trezza, Anwar Baban, Jennifer A. Bassetti, Yolande van Bever, Lynne M. Bird, Bregje W. van Bon, Alice S. Brooks, Qiaoning Guan, Eric W. Klee, Carlo Marcelis, Joel M. Rosado, Lisa A. Schimmenti, Amy R. Shikany, Paulien A. Terhal, Kathryn Nicole Weaver, Marja W. Wessels, Hester van Wieringen, Anna C. Hurst, Catherine F. Gooch, Katharina Steindl, Pascal Joset, Anita Rauch, Marco Tartaglia, Marcello Niceta, Ype Elgersma, Serwet Demirdas
Summary: This study identifies clinical phenotypes associated with MAP3K7 gene mutations, confirming the correlation between different mutation types and phenotypes in FMD2 and CSCF, and highlighting the importance of considering MAP3K7 mutations in the differential diagnosis of cardiac defects, connective tissue disorders, and NS.
Article
Genetics & Heredity
Paranchai Boonsawat, Anselm H. C. Horn, Katharina Steindl, Alessandra Baumer, Pascal Joset, Dennis Kraemer, Angela Bahr, Ivan Ivanovski, Elena M. Cabello, Michael Papik, Markus Zweier, Beatrice Oneda, Pietro Sirleto, Tilo Burkhardt, Heinrich Sticht, Anita Rauch
Summary: This study investigated the potential of preconception expanded carrier screening (ECS) to reduce the risk of neurodevelopmental disorders (NDDs). The results showed that the risk reduction potential was up to 43.5% for consanguineous couples and 5.1% for nonconsanguineous couples. However, the study found that underestimation of pathogenicity and other factors compromised the risk reduction potential. Therefore, it is recommended to screen for genetic mutations in all couples seeking ECS and set sensible pathogenicity thresholds to optimize clinical outcomes.
NPJ GENOMIC MEDICINE
(2022)
Article
Biology
Jing Zhao, Anahid A. Birjandi, Mohi Ahmed, Yushi Redhead, Jose Villagomez Olea, Paul Sharpe
Summary: This study identifies the role of telocytes in regulating macrophage activity in the periodontium. In periodontitis, telocytes proliferate and produce HGF signals, which cause macrophages to shift from an M1 to an M1/M2 state.
Article
Biochemistry & Molecular Biology
Ella Vintschger, Dennis Kraemer, Pascal Joset, Anselm H. C. Horn, Anita Rauch, Heinrich Sticht, Ruxandra Bachmann-Gagescu
Summary: Next generation sequencing (NGS) is used to detect carrier status for rare recessive disorders. The recent ACMG recommendations support NGS-based carrier screening (NGS-CS) for genes with a carrier frequency > 1/200. However, variant interpretation in healthy individuals presents challenges, and the true carrier frequencies are uncertain. Thus, genetic counseling for NGS-CS should disclose these limitations.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Anais Begemann, Beatrice Oneda, Alessandra Baumer, Marina Guldimann, Boris Tutschek, Anita Rauch
Summary: This study reports on a three-generation female family with a deletion in the POLA1 gene, which leads to subfertility as the only phenotype. The findings suggest that heterozygous deletions or truncating variants in females with skewed X inactivation do not cause X-linked neurodevelopmental disorders and support the hypothesis of early embryonic lethality in males with complete loss of POLA1.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2022)
Article
Genetics & Heredity
Tanja Frey, Ivan Ivanovski, Angela Bahr, Markus Zweier, Julia Laube, Isabelle Luchsinger, Katharina Steindl, Anita Rauch
Summary: Costello syndrome is a severe neurodevelopmental disorder caused by activating variants in HRAS. We report a unique and attenuated phenotype in six individuals with the HRAS variant c.176C>T p.(Ala59Gly), which has not been reported before as a germline variant. These individuals show ectodermal anomalies and mild features of a RASopathy, similar to patients with a Noonan syndrome-like disorder. Our findings suggest a distinct HRAS-related RASopathy for patients carrying HRAS variants affecting codons 58, 59, 60.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Dentistry, Oral Surgery & Medicine
Mariane Beatriz Sordi, Marcio Celso Fredel, Ariadne Cristiane Cabral da Cruz, Paul Thomas Sharpe, Ricardo de Souza Magini
Summary: This study evaluated the effectiveness of hydrogel-based scaffolds embedded with PTH-loaded MBG on bone tissue regeneration in vitro. The results showed that the scaffolds exhibited consistent morphology and physicochemical properties, as well as bioactivity, biocompatibility, and osteoinductivity. These findings suggest that these scaffolds have potential for future 3D printing studies.
CLINICAL ORAL INVESTIGATIONS
(2023)
Article
Genetics & Heredity
Anais Begemann, Heinrich Sticht, Amber Begtrup, Antonio Vitobello, Laurence Faivre, Siddharth Banka, Bader Alhaddad, Reza Asadollahi, Jessica Becker, Tatjana Bierhals, Kathleen E. Brown, Ange-Line Bruel, Theresa Brunet, Maryline Carneiro, Kirsten Cremer, Robert Day, Anne-Sophie Denomme-Pichon, Dave A. Dyment, Hartmut Engels, Rachel Fisher, Elaine S. Goh, M. J. Hajianpour, Lucia Ribeiro Machado Haertel, Nadine Hauer, Maja Hempel, Theresia Herget, Jessika Johannsen, Cornelia Kraus, Gwenael Le Guyader, Gaetan Lesca, Frederic Tran Mau-Them, John Henry McDermott, Kirsty McWalter, Pierre Meyer, Katrin Ounap, Bernt Popp, Tiia Reimand, Korbinian M. Riedhammer, Martina Russo, Lynette G. Sadleir, Margarita Saenz, Manuel Schiff, Elisabeth Schuler, Steffen Syrbe, Amelie Theresa Van der Ven, Alain Verloes, Marjolaine Willems, Christiane Zweier, Katharina Steindl, Markus Zweier, Anita Rauch
Summary: De novo missense variants in the CYFIP2 gene have been identified as a novel cause of severe intellectual disability, seizures, and hypotonia. Structural modeling and investigation of WRC-mediated actin polymerization confirmed the impact of CYFIP2 variants on cellular pathomechanism. The study expands the clinical and molecular spectrum of CYFIP2-related neurodevelopmental disorders.
GENETICS IN MEDICINE
(2021)