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
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
Genetics & Heredity
Francesca Andreoni, Claudia Sgattoni, Daniela Bencardino, Oriana Simonetti, Antonino Forabosco, Mauro Magnani
Summary: The study identified variants in the EDA, EDAR, and EDARADD genes related to HED and tooth agenesis in two families. A novel missense variant in EDAR was found to cause autosomal dominant HED, while a previously described genetic variant in EDA confirmed its role in X-linked HED. The findings highlight variable expressions of HED in heterozygous females and different modes of inheritance related to tooth development.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Dentistry, Oral Surgery & Medicine
Y. Zeng, E. Baugh, S. Akyalcin, A. Letra
Summary: Mutations in WNT10A gene have been frequently associated with tooth agenesis, with most of the variants related to this condition affecting protein function and leading to decreased WNT signaling.
JOURNAL OF DENTAL RESEARCH
(2021)
Article
Genetics & Heredity
Francesca Andreoni, Claudia Sgattoni, Daniela Bencardino, Oriana Simonetti, Antonino Forabosco, Mauro Magnani
Summary: The study identified a novel missense variant in the EDAR gene leading to autosomal dominant HED in one family, while the previously described genetic variant in the EDA gene confirmed its role in X-linked HED in another family. The inheritance model of the missense mutation showed different relationships with X-linked HED and non-syndromic tooth agenesis.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
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
Medicine, General & Internal
Barbara Biedziak, Ewa Firlej, Justyna Dabrowska, Agnieszka Bogdanowicz, Malgorzata Zadurska, Adrianna Mostowska
Summary: This study identified pathogenic and likely pathogenic variants associated with non-syndromic tooth agenesis (ns-TA) through screening coding sequences of candidate genes. Known candidate genes and newly discovered gene variants may play important roles in the development of ns-TA. Further research is needed to confirm the role of these genes and understand the etiology of ns-TA.
JOURNAL OF CLINICAL MEDICINE
(2022)
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)
Article
Dentistry, Oral Surgery & Medicine
Zhining Zhao, Tingting Zhang, Tianqi Li, Yangyang Ye, Chong Feng, Huijuan Wang, Xiangyu Zhang
Summary: This study identified a novel EDAR variant in a Chinese family with non-syndromic tooth agenesis, which affects the binding of EDAR and EDARADD.
ARCHIVES OF ORAL BIOLOGY
(2023)
Article
Genetics & Heredity
Hongyu Zhang, Xuanting Kong, Jiabao Ren, Shuo Yuan, Chunyan Liu, Yan Hou, Ye Liu, Lingqiang Meng, Guozhong Zhang, Qingqing Du, Wenjing Shen
Summary: A novel missense variant EDAR c.338G>A (p.(Cys113Tyr)) was identified in a Chinese family with NSTA, expanding the mutation spectrum of the EDAR gene. Genotype-phenotype correlation analyses revealed that mutations in the EDAR gene may lead to loss of maxillary lateral incisors in NSTA patients.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Genetics & Heredity
Kang Yu, Jiaqi Dou, Wei Huang, Feng Wang, Yiqun Wu
Summary: This study conducted whole-exome sequencing on 131 tooth agenesis patients and identified pathogenic variants in 73 patients, providing a molecular diagnostic rate for tooth agenesis. The study found that WNT10A and EDA are the most common causative genes associated with tooth agenesis.
Article
Dentistry, Oral Surgery & Medicine
Emily Crossan, Anne C. O'Connell
Summary: Parents of children with ectodermal dysplasia (ED) and severe isolated hypodontia (IH) perceive a greater impact on quality of life (QoL), for both the child and their family. Children with ED require earlier intervention and more extensive treatment than children with IH and their controls. The study highlights the importance of understanding parental perspectives in planning and providing care for children with complex dental needs.
Article
Chemistry, Multidisciplinary
Shirley Schonberger, Yehoshua Shapira, Aikaterini Maria Pavlidi, Tamar Finkelstein
Summary: The study evaluated the prevalence and patterns of tooth agenesis among orthodontic individuals, finding an 11% prevalence of missing permanent teeth, with a higher tendency in females and in the maxilla compared to the mandible. Bilateral missing maxillary lateral incisors and mandibular second premolars were more prevalent than unilateral missing teeth.
APPLIED SCIENCES-BASEL
(2022)
Article
Biochemistry & Molecular Biology
Haochen Liu, Hangbo Liu, Lanxin Su, Jinglei Zheng, Hailan Feng, Yang Liu, Miao Yu, Dong Han
Summary: This study investigates and identifies PAX9 gene variants in Chinese families with non-syndromic tooth agenesis. Through sequencing and experiments, it identifies four novel heterozygous variants and studies their effects on function. Additionally, it analyzes the tooth missing positions caused by PAX9 variants and provides valuable information for genetic counseling.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Natalia Torlinska-Walkowiak, Katarzyna A. Majewska, Anna Sowinska, Andrzej Kedzia, Justyna Opydo-Szymaczek
Summary: The study found that isolated growth hormone deficient (GHD) patients are more likely to have dental anomalies, such as missing teeth and abnormal tooth sizes, compared to healthy children. The prevalence of developmental defects of enamel (DDE) did not differ significantly between the two groups.
SCIENTIFIC REPORTS
(2023)
Article
Genetics & Heredity
Luis Francisco Gonzalez Alvarez, Jair Tenorio-Castano, Fernando A. Poletta, Fernando Santos-Simarro, Pedro Arias, Natalia Gallego, Ieda Maria Orioli, Stefan Mundlos, Eduardo E. Castilla, Victor Martinez-Glez, Maria Luisa Martinez-Frias, Victor L. Ruiz-Perez, Julian Nevado, Pablo Lapunzina
Summary: We present a large family with 273 individuals, of which 84 people have preaxial polydactyly/triphalangeal thumb caused by a pathogenic variant in the ZRS sequence within exon 5 of the LMBR1 gene. This is the largest family reported so far with this condition.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Geriatrics & Gerontology
Marta Del Pozo-Valero, Marta Corton, Rosario Lopez-Rodriguez, Ignacio Mahillo-Fernandez, Javier Ruiz-Hornillos, Pablo Minguez, Cristina Villaverde, Maria Elena Perez-Tomas, Maria Barreda-Sanchez, Esther Mancebo, Estela Paz-Artal, Encarna Guillen-Navarro, Berta Almoguera, Carmen Ayuso
Summary: This study reveals the association between clonal hematopoiesis and mortality in COVID-19 patients, particularly showing a significant correlation between pathogenic/likely pathogenic clonal hematopoiesis and mortality in the 75-84 age group.
Article
Biochemistry & Molecular Biology
Guillermo Amate-Garcia, Maria Juliana Ballesta-Martinez, Pablo Serrano-Lorenzo, Rocio Garrido-Moraga, Adrian Gonzalez-Quintana, Alberto Blazquez, Juan C. Rubio, Ines Garcia-Consuegra, Joaquin Arenas, Cristina Ugalde, Maria Moran, Encarnacion Guillen-Navarro, Miguel A. Martin
Summary: We reported a neonatal patient with hypertrophic cardiomyopathy (HCM), lactic acidosis, and isolated complex I deficiency. Through molecular and functional assays, we identified a novel hemizygous variant in the NDUFB11 gene, which is associated with mitochondrial respiratory chain impairment. Our findings emphasize the importance of characterizing the molecular effect of new variants in the patient's tissues to demonstrate their pathogenicity and association with clinical phenotypes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Dermatology
Antonio Torrelo, Laura Pericet, Isabel Hernandez-Surmann, Gabriel Martos, Ana Mateos-Mayo, Lucero Noguera-Morel, Angela Hernandez-Martin, Jesus Argente, Isabel Colmenero
JOURNAL OF CUTANEOUS PATHOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Alejandro Cruz-Utrilla, Natalia Gallego-Zazo, Carmen Perez-Olivares, Ignacio Hernandez-Gonzalez, Pedro Bedate, Amaya Martinez Menaca, Manuel Lopez Meseguer, Pablo Lapunzina, Marta Perez Nunez, Nuria Ochoa Parra, Diana Valverde, Jair Antonio Tenorio-Castano, Pilar Escribano-Subias
Summary: This study analyzed the genetic testing results of 298 patients with pulmonary arterial hypertension and incorporated genetic information into the current risk assessment model. The study found that although genetic information did not significantly improve the overall prognostic evaluation, it could better identify patients at intermediate-low and intermediate-high risk. This is of great significance for optimizing treatment strategies and improving patient prognosis.
REVISTA ESPANOLA DE CARDIOLOGIA
(2023)
Article
Andrology
Rosario Lopez-Rodriguez, Javier Ruiz-Hornillos, Marta Corton, Berta Almoguera, Pablo Minguez, Maria Elena Perez-Tomas, Maria Barreda-Sanchez, Esther Mancebo, Lorena Ondo, Andrea Martinez-Ramas, Lidia Fernandez-Caballero, Juan Carlos Taracido-Fernandez, Antonio Herrero-Gonzalez, Ignacio Mahillo, Estela Paz-Artal, Encarna Guillen-Navarro, Carmen Ayuso
Summary: There is no association between the androgen receptor polyQ polymorphism and the severity of COVID-19 in male patients.
Article
Genetics & Heredity
Holm Schneider, Smail Hadj-Rabia, Florian Faschingbauer, Christine Bodemer, Dorothy K. Grange, Mary E. Norton, Riccardo Cavalli, Gianluca Tadini, Holger Stepan, Angus Clarke, Encarna Guillen-Navarro, Sigrun Maier-Wohlfart, Athmane Bouroubi, Florence Porte
Summary: X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic disorder characterized by abnormal development of the skin and its appendages, such as hair and sweat glands, the teeth, and mucous glands of the airways, resulting in serious complications. It is caused by pathogenic variants of the ectodysplasin A gene (EDA). Currently, there are no long-term treatment options for XLHED.
Article
Respiratory System
Carlota Rodriguez-Garcia, Emilio Rodriguez-Ruiz, Alberto Ruano-Ravina, Raquel Cruz, Maria Pineiro-Lamas, Ana Casal, Pablo Lapunzina, Angel Carracedo, Luis Valdes
JOURNAL OF THORACIC DISEASE
(2023)
Article
Multidisciplinary Sciences
Erola Pairo-Castineira, Konrad Rawlik, Andrew D. Bretherick, Ting Qi, Yang Wu, Isar Nassiri, Glenn A. McConkey, Marie Zechner, Lucija Klaric, Fiona Griffiths, Wilna Oosthuyzen, Athanasios Kousathanas, Anne Richmond, Jonathan Millar, Clark D. Russell, Tomas Malinauskas, Ryan Thwaites, Kirstie Morrice, Sean Keating, David Maslove, Alistair Nichol, Malcolm G. Semple, Julian Knight, Manu Shankar-Hari, Charlotte Summers, Charles Hinds, Peter Horby, Lowell Ling, Danny McAuley, Hugh Montgomery, Peter J. M. Openshaw, Colin Begg, Timothy Walsh, Albert Tenesa, Carlos Flores, Jose A. Riancho, Augusto Rojas-Martinez, Pablo Lapunzina, Jian Yang, Chris P. Ponting, James F. Wilson, Veronique Vitart, Malak Abedalthagafi, Andre D. Luchessi, Esteban J. Parra, Raquel Cruz, Angel Carracedo, Angie Fawkes, Lee Murphy, Kathy Rowan, Alexandre C. Pereira, Andy Law, Benjamin Fairfax, Sara Clohisey Hendry, J. Kenneth Baillie
Summary: This study analyzed genetic data from 24,202 severe COVID-19 cases and identified potentially druggable targets, including inflammatory signaling, monocyte-macrophage activation and endothelial permeability, immunometabolism, and host factors required for viral entry and replication.
Article
Genetics & Heredity
Ana Karen Sandoval-Talamantes, Maria Angeles Mori, Fernando Santos-Simarro, Sixto Garcia-Minaur, Elena Mansilla, Jair Antonio Tenorio, Carolina Pena, Carmen Adan, Maria Fernandez-Elvira, Inmaculada Rueda, Pablo Lapunzina, Julian Nevado
Summary: Autism spectrum disorders (ASD) are a neurodevelopmental disorder characterized by deficits in communication and social interaction, as well as repetitive and restrictive behaviors. The genetic implications of ASD have been extensively studied, with numerous associated genes identified. Chromosomal microarray analysis (CMA) is a rapid and effective method for detecting deletions and duplications associated with ASD. This article presents the implementation of CMA as a first-tier test in a clinical laboratory, and the findings indicate the presence of clinically significant copy number variants (CNVs) in ASD patients, emphasizing the genetic and clinical heterogeneity of the disorder.
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
Anna Stathopoulou, Lucero Noguera-Morel, Isabel Colmenero, Sara Sirvent-Cerda, Antonio Torrelo, Angela Hernandez-Martin
Summary: This case report describes a healthy girl with idiopathic calcinosis cutis, in which the subcutaneous nodules resolved spontaneously over an 18-month period. It highlights the importance of a wait-and-see approach in such cases.
PEDIATRIC DERMATOLOGY
(2023)
Article
Genetics & Heredity
Cristina Bel-Fenellos, Chantal Biencinto-Lopez, Belen Saenz-Rico, Adolfo Hernandez, Ana Karen Sandoval-Talamantes, Jair Tenorio-Castano, Pablo Lapunzina, Julian Nevado
Summary: This study described the developmental profile of a cohort of children with 5p minus Syndrome in terms of biomedical, genetic, cognitive, and behavioral aspects. It was found that children with this syndrome have higher cognitive levels but lower communicative and motor levels. Language difficulties, especially expressive ones, influence the frequency and severity of behavioral problems. Additionally, a significant correlation was found between the size of the genetic material loss on chromosome 5p and cognitive level.
Letter
Dermatology
Xavier Bosch-Amate, Pilar Iranzo-Fernandez, Jose Manuel Mascaro Jr, Norito Ishii, Takashi Hashimoto
ANNALS OF DERMATOLOGY
(2023)
Article
Genetics & Heredity
Daniel Lopez-Lopez, Gema Roldan, Jose Fernandez-Rueda, Gerrit Bostelmann, Rosario Carmona, Virginia Aquino, Javier Perez-Florido, Francisco Ortuno, Guillermo Pita, Rocio Nunez-Torres, Anna Gonzalez-Neira, Maria Pena-Chilet, Joaquin Dopazo
Summary: SPACNACS is a collaborative database that collects copy number variation data from more than 400 genomes and exomes of unrelated Spanish individuals. It provides detailed information on the local genetic variability and can be used for disease gene discovery and pharmacogenomics research.