Article
Genetics & Heredity
Hoda A. Ahmed, Ghada Y. El-Kamah, Eman Rabie, Mostafa Mostafa, Maha R. Abouzaid, Nehal F. Hassib, Mennat Mehrez, Mohamed A. Abdel-Kader, Yasmine H. Mohsen, Suher K. Zada, Khalda S. Amr, Inas S. M. Sayed
Summary: Ectodermal dysplasia (ED) is a group of genetic disorders affecting structures derived from the ectoderm, with the most common phenotype being hypohidrotic/anhidrotic ectodermal dysplasia (HED) characterized by sparse hair, lack of sweat glands, and missing teeth. Molecular diagnosis is crucial for disease management, and the use of targeted next generation sequencing has allowed for the identification of genetic heterogeneity, variable expressivity, and intrafamilial phenotypic variability in ED patients.
Article
Pediatrics
Victoria-Eugenia Garcia-Martinez, Ximo Galiana-Valles, Otilia Zomeno-Alcala, Raquel Rodriguez-Lopez, Carmen Llena, Maria del Carmen Martinez-Romero, Encarna Guillen-Navarro
Summary: This article describes an 11-year-old Chinese boy with oligodontia, characterized by conical-shaped teeth as the main phenotype and other mild ectodermal signs. Genetic analysis revealed compound heterozygous pathogenic variants in the WNT10A gene and a homozygous polymorphism in the EDAR gene. The findings suggest that WNT10A mutations are primarily responsible for the dental phenotype, while the EDAR polymorphism may attenuate the severity of other ectodermal signs.
Article
Dermatology
Nobuyuki Asano, Shuichiro Yasuno, Ryota Hayashi, Yutaka Shimomura
Summary: This study identified that certain mutations in the EDARADD gene can lead to reduced NF-κB activity and exert dominant negative effects, providing insights into the molecular mechanisms underlying the disease.
JOURNAL OF DERMATOLOGY
(2021)
Article
Dermatology
Sasagu Yagi, Shuichiro Yasuno, Osamu Ansai, Ryota Hayashi, Yutaka Shimomura
Summary: Hypohidrotic ectodermal dysplasia is a rare condition characterized by reduced sweating, missing teeth, and sparse hair. In this study, in vitro experiments revealed that the degree of loss-of-function varied among different mutant EDAR proteins associated with autosomal forms, which may be correlated with the severity of the disease.
JOURNAL OF DERMATOLOGY
(2023)
Review
Genetics & Heredity
Yanzi Gao, Xiaohui Jiang, Zhi Wei, Hu Long, Wenli Lai
Summary: Non-syndromic tooth agenesis (NSTA) is a common dental developmental malformation affected by genetic factors. The EDA, EDAR, and EDARADD genes in the EDA/EDAR/NF-κB signaling pathway have been found to play essential roles in the pathogenesis of NSTA. This review provides an overview of the genetic basis of NSTA and highlights the importance of genetic analysis in diagnosing and managing NSTA and related ectodermal disorders.
FRONTIERS IN GENETICS
(2023)
Article
Cell Biology
Jorge del-Pozo, Denis J. Headon, James D. Glover, Ali Azar, Sonia Schuepbach-Mallepell, Mahmood F. Bhutta, Jon Riddell, Scott Maxwell, Elspeth Milne, Pascal Schneider, Michael Cheeseman
Summary: The growth and function of sebaceous glands and eyelid Meibomian glands depend on the ectodysplasin signalling pathway, which has been found in mice, rats, dogs, and humans. Mutation of genes in this pathway leads to hypohidrotic ectodermal dysplasia, characterized by impaired development of teeth, hair, and cutaneous glands. Additionally, the Zymbal's gland, a large auditory sebaceous gland in the rodent ear canal, has been found to be hypoplastic in mice and rats with a deficiency in the ectodysplasin pathway. Treatment with agonist anti-EDAR antibodies has been shown to rescue the Zymbal's glands in mice. These findings suggest that sebum deficiency is the main factor in the development of bacterial infections, such as otitis externa, and the Eda(Ta) mouse may serve as a useful microbial challenge model for this condition in humans.
DISEASE MODELS & MECHANISMS
(2022)
Article
Oncology
James M. Chan, Mark Clendenning, Sharelle Joseland, Peter Georgeson, Khalid Mahmood, Romy Walker, Julia Como, Jihoon E. Joo, Susan Preston, Ryan A. Hutchinson, Bernard J. Pope, Andrew Metz, Catherine Beard, Rebecca Purvis, Julie Arnold, Varnika Vijay, Galina Konycheva, Nathan Atkinson, Susan Parry, Mark A. Jenkins, Finlay A. Macrae, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan
Summary: Germline loss-of-function variants in AXIN2 are associated with oligodontia and ectodermal dysplasia. The study identified four families with pathogenic variants in AXIN2 that were associated with CRC and/or polyposis in multiple family members, supporting the inclusion of AXIN2 in CRC and polyposis multigene panels for clinical testing.
Review
Genetics & Heredity
Marina Cerezo-Cayuelas, Amparo Perez-Silva, Clara Serna-Munoz, Ascension Vicente, Yolanda Martinez-Beneyto, Inmaculada Cabello-Malagon, Antonio Jose Ortiz-Ruiz
Summary: This systematic review aimed to determine the orthodontic and dentofacial orthopedic treatments carried out in patients with ectodermal dysplasia. The findings suggest that there is a lack of studies with high scientific evidence to determine the best treatment for these patients.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Review
Dentistry, Oral Surgery & Medicine
Antoine Thuaire, Romain Nicot, Gwenael Raoul, Ludovic Lauwers
Summary: This article presents a review of oligodontia and proposes a guideline for the choice of bone augmentation surgery. The study included 30 clinical studies involving 410 patients, and the results showed different outcomes of various bone augmentation techniques in patients with oligodontia. The appropriate choice of bone augmentation technique can reduce the risk of peri-implant bone resorption.
JOURNAL OF STOMATOLOGY ORAL AND MAXILLOFACIAL SURGERY
(2023)
Article
Dentistry, Oral Surgery & Medicine
Cailing Jiang, Kang Yu, Yihan Shen, Feng Wang, Qinggang Dai, Yiqun Wu
Summary: The objective of this study was to investigate the associations between PAX9 mutations and clinical features of non-syndromic tooth agenesis patients. Through whole exome sequencing, mutations in PAX9 gene were identified in non-syndromic tooth agenesis patients, and conservation analysis and three-dimensional structure prediction were conducted to analyze the mutated proteins. The study found that PAX9 mutations were associated with non-syndromic tooth agenesis and caused functional impairments of the PAX9 protein.
CLINICAL ORAL INVESTIGATIONS
(2023)
Article
Health Care Sciences & Services
Yejin Lee, Wonseon Chae, Youn Jung Kim, Jung-Wook Kim
Summary: Two novel LRP6 mutations were identified in non-syndromic oligodontia families, suggesting their potential role in tooth agenesis.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Cell & Tissue Engineering
Yuhua Pan, Ting Lu, Ling Peng, Qi Zeng, Xiangyu Huang, Xinchen Yao, Buling Wu, Fu Xiong
Summary: This study identified an EDA gene mutation in a Chinese family leading to tooth agenesis, particularly in heterozygous female carriers. The mutation was found to regulate odontogenesis through the NF-kappa B signaling pathway in hDPSCs. This research provided a genetic basis for individuals with similar clinical phenotypes of tooth agenesis.
STEM CELLS INTERNATIONAL
(2021)
Article
Medicine, General & Internal
Humaira Shamim, Sumera Hanif
Summary: Ectodermal dysplasia (ED) is a rare genetic disorder that affects various ectoderm-derived tissues and organs. This case report discusses a rare association of clubbing with hypohidrotic ectodermal dysplasia (HED) and emphasizes the need for a multidisciplinary approach for managing ED.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Genetics & Heredity
William Dufour, Salem Alawbathani, Anne-Sophie Jourdain, Maria Asif, Genevieve Baujat, Christian Becker, Birgit Budde, Lyndon Gallacher, Theodoros Georgomanolis, Jamal Ghoumid, Wolfgang Hoehne, Stanislas Lyonnet, Iman Ali Ba-Saddik, Sylvie Manouvrier-Hanu, Susanne Motameny, Angelika A. Noegel, Lynn Pais, Clemence Vanlerberghe, Prerana Wagle, Susan M. White, Marjolaine Willems, Peter Nuernberg, Fabienne Escande, Florence Petit, Muhammad Sajid Hussain
Summary: This study identifies mono- and biallelic variants in LEF1 as a cause for a novel syndrome characterized by limb malformations and ectodermal dysplasia.
GENETICS IN MEDICINE
(2022)
Article
Genetics & Heredity
Daphna Landau Prat, William R. Katowitz, Alanna Strong, James A. Katowitz
Summary: The study evaluated ocular manifestations in pediatric patients with ED and found various ocular abnormalities, including lacrimal drainage obstruction, refractive errors, and amblyopia. Lash ptosis and eyelid ptosis may be associated with specific gene variants.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Oncology
Loora Laan, Joakim Klar, Maria Sobol, Jan Hoeber, Mansoureh Shahsavani, Malin Kele, Ambrin Fatima, Muhammad Zakaria, Goran Anneren, Anna Falk, Jens Schuster, Niklas Dahl
CLINICAL EPIGENETICS
(2020)
Article
Genetics & Heredity
Joakim Klar, Helene Engstrand-Lilja, Khurram Maqbool, Jonas Mattisson, Lars Feuk, Niklas Dahl
BMC MEDICAL GENOMICS
(2020)
Article
Hematology
Talia Akram, Ambrin Fatima, Joakim Klar, Jan Hoeber, Muhammad Zakaria, Muhammad Tariq, Shahid M. Baig, Jens Schuster, Niklas Dahl
INTERNATIONAL JOURNAL OF HEMATOLOGY
(2020)
Article
Genetics & Heredity
Ambrin Fatima, Jan Hoeber, Jens Schuster, Eriko Koshimizu, Carolina Maya-Gonzalez, Boris Keren, Cyril Mignot, Talia Akram, Zafar Ali, Satoko Miyatake, Junpei Tanigawa, Takayoshi Koike, Mitsuhiro Kato, Yoshiko Murakami, Uzma Abdullah, Muhammad Akhtar Ali, Rein Fadoul, Loora Laan, Casimiro Castillejo-Lopez, Maarika Liik, Zhe Jin, Bryndis Birnir, Naomichi Matsumoto, Shahid M. Baig, Joakim Klar, Niklas Dahl
Summary: Neurochondrin (NCDN) is a crucial neural protein involved in neural growth, glutamate receptor signaling, and synaptic plasticity. Variants in NCDN have been associated with developmental delay, intellectual disability, and epilepsy. Studies have shown that NCDN plays a role in neurite formation, synaptic transmission, and normal neuronal biophysical properties.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Correction
Genetics & Heredity
Ambrin Fatima, Jan Hoeber, Jens Schuster, Eriko Koshimizu, Carolina Maya-Gonzalez, Boris Keren, Cyril Mignot, Talia Akram, Zafar Ali, Satoko Miyatake, Junpei Tanigawa, Takayoshi Koike, Mitsuhiro Kato, Yoshiko Murakami, Uzma Abdullah, Muhammad Akhtar Ali, Rein Fadoul, Loora Laan, Casimiro Castillejo-Lopez, Maarika Liik, Zhe Jin, Bryndis Birnir, Naomichi Matsumoto, Shahid M. Baig, Joakim Klar, Niklas Dahl
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Cell & Tissue Engineering
Jens Schuster, Rekha Tripathi, Joakim Klar, Niklas Dahl
Summary: In this study, a human iPSC line was generated from a patient with Dravet syndrome. The iPSC line showed expression of pluripotency markers, tri-lineage differentiation capacity, and genomic stability. This iPSC line provides a valuable resource for studying the pathophysiology of Dravet syndrome and related seizures.
STEM CELL RESEARCH
(2022)
Article
Medicine, General & Internal
Eva-Lena Stattin, Emil Hagstrom, Niklas Dahl, Anneli Stromsoe, Angelica Maria Delgado-Vega, Joakim Klar, Bodil Svennblad, Mats Borjesson, Aase Wisten
Summary: The SUDDY cohort in Sweden is a nationwide platform established to study sudden cardiac death in young people. They used data from multiple registries and collected information from autopsies, medical records, and biological samples. 903 cases of sudden cardiac death have been identified so far, and some characteristics related to this disease have been discovered.
Article
Immunology
Serena Fineschi, Joakim Klar, Kristin Ayoola Gustafsson, Kent Jonsson, Bo Karlsson, Niklas Dahl
Summary: Fibromyalgia (FM) is a chronic disease characterized by widespread musculoskeletal pain and immune system activation. Research has found that FM patients have an interferon signature in B-cells and elevated levels of inflammatory serum proteins, which are associated with the severity of FM.
FRONTIERS IN IMMUNOLOGY
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Angelica Maria Delgado-Vega, Joakim Klar, Varvara Kommata, Aase Wisten, Niklas Dahl, Mats Borjesson, Eva-Lena Stattin
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Genetics & Heredity
Clarisse Delvallee, Samuel Nicaise, Manuela Antin, Anne-Sophie Leuvrey, Elsa Nourisson, Carmen C. Leitch, Georgios Kellaris, Corinne Stoetzel, Veronique Geoffroy, Sophie Scheidecker, Boris Keren, Christel Depienne, Joakim Klar, Niklas Dahl, Jean-Francois Deleuze, Emmanuelle Genin, Richard Redon, Florence Demurger, Koenraad Devriendt, Michele Mathieu-Dramard, Christine Poitou-Bernert, Sylvie Odent, Nicholas Katsanis, Jean-Louis Mandel, Erica E. Davis, Helene Dollfus, Jean Muller
Summary: Bardet-Biedl syndrome is a rare ciliopathy with various symptoms, recent studies have identified a rare insertion mutation in the gene of some patients.
Meeting Abstract
Biochemistry & Molecular Biology
S. Jens, L. Laan, J. Klar, Z. Jin, M. Huss, S. Korol, F. H. Norradin, B. Birnir, N. Dahl
EUROPEAN JOURNAL OF HUMAN GENETICS
(2019)
Meeting Abstract
Biochemistry & Molecular Biology
J. Klar, H. Engstrand Lilja, J. Mattisson, N. Dahl
EUROPEAN JOURNAL OF HUMAN GENETICS
(2019)
Meeting Abstract
Biochemistry & Molecular Biology
A. Fatima, J. Schuster, J. Hoeber, J. Klar, L. Laan, R. Fadoul, Z. Ali, M. A. Ali, C. Castillejo-Lopez, S. M. Baig, N. Dahl
EUROPEAN JOURNAL OF HUMAN GENETICS
(2019)
Meeting Abstract
Biochemistry & Molecular Biology
J. Klar, J. Schuster, M. Sobol, L. Laan, A. Fatima, G. Anneren, N. Dahl
EUROPEAN JOURNAL OF HUMAN GENETICS
(2019)
Meeting Abstract
Biochemistry & Molecular Biology
L. Laan, J. Klar, M. Sobol, J. Hoeber, M. Zakaria, G. Anneren, A. Falk, J. Schuster, N. Dahl
EUROPEAN JOURNAL OF HUMAN GENETICS
(2019)