Article
Genetics & Heredity
Yupei Wang, Chuan Zhang, Bingbo Zhou, Ling Hui, Lei Zheng, Xue Chen, Shifan Wang, Lan Yang, Shengju Hao, Qinghua Zhang
Summary: This study identified three variations in the EDA gene, all affecting the structure of exon 1. Experimental analysis of a splicing variant (c.396 + 1 G > C) showed that it leads to a prolonged EDA-A1 transcript in vitro. Additionally, chromosomal microarray analysis confirmed a novel deletion variant in exon 1.
FRONTIERS IN GENETICS
(2022)
Article
Medicine, General & Internal
Haochen Liu, Lanxin Su, Hangbo Liu, Jinglei Zheng, Hailan Feng, Yang Liu, Miao Yu, Dong Han
Summary: This study identified pathogenic gene variants in female patients with severe XLHED and found that these variants might cause structural damage to EDA proteins. It also discovered differences in X-chromosome inactivation, which could assist with clinical diagnosis, treatment, and genetic counseling.
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
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)
Letter
Allergy
Bhavi P. Modi, Kate L. Del Bel, Susan Lin, Mehul Sharma, Phillip A. Richmond, Clara D. M. van Karnebeek, Edmond S. Chan, Vishal Avinashi, Wingfield E. Rehmus, Catherine M. Biggs, Wyeth W. Wasserman, Stuart E. Turvey
Summary: This study presents a family with X-linked hypohidrotic ectodermal dysplasia (XLHED), showing variable expressivity of symptoms among affected siblings. Exome sequencing identified a pathogenic nonsense variant in the EDA gene, leading to a precise molecular diagnosis of XLHED and allowing for exclusion of other differential diagnoses.
ALLERGY ASTHMA AND CLINICAL IMMUNOLOGY
(2021)
Article
Genetics & Heredity
Kang Yu, Yihan Shen, Cai-Ling Jiang, Wei Huang, Feng Wang, Yi-Qun Wu
Summary: This study identified two novel EDA gene mutations, which significantly impaired the solubility of EDA1 protein and reduced NF-kappa B activation induced by these mutant proteins. Prenatal diagnosis was successfully applied to a pregnant carrier, providing genetic counseling and intervention for the XLHED family.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Pediatrics
Mario Tumminello, Antonella Gangemi, Federico Matina, Melania Guardino, Bianca Lea Giuffre, Giovanni Corsello
Summary: Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder affecting structures of ectodermal origin, with X-linked HED being the most common form. A male newborn was reported with clinical features of X-linked HED, including hypotrichosis, hypodontia, and hypohidrosis. Gene panel sequencing revealed a new hemizygous missense variant of uncertain significance in the EDA gene on the X chromosome inherited from the mother. Further research is needed to confirm the potential effects of this novel variant on the development of HED.
ITALIAN JOURNAL OF PEDIATRICS
(2021)
Article
Medicine, General & Internal
Hammad Aftab, Ivan A. Escudero, Fatin Sahhar
Summary: This case report presents an adult with XLHED and highlights the importance of early diagnosis, advocates for a multidisciplinary management approach, and sheds light on the potential of recombinant protein and targeted gene therapy for further research. By raising awareness of this condition, the aim is to improve patient outcomes in both newborns and adults who have already been diagnosed with XLHED.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Dentistry, Oral Surgery & Medicine
Konstantinos Agiannitopoulos, Kevisa Potska, Anna Douka, Iphigenia Gintoni, Georgios N. Tsaousis, Eirini Papadopoulou, George Nasioulas, Christos Yapijakis
Summary: In this study, a novel gross deletion in the Ectodysplasin A gene was identified in a male patient with X-linked hypohidrotic ectodermal dysplasia. This study highlights the importance of the collagen domain in the Ectodysplasin A gene for its function in vivo.
ARCHIVES OF ORAL BIOLOGY
(2023)
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
Genetics & Heredity
Xingyu Liu, Yuming Zhao, Junxia Zhu
Summary: A novel mutation (c.593G > A, p. Gly198Glu) in the collagen domain of EDA was identified, which impairs the receptor-binding activity of EDA and the transcriptional activity of NF-kappa B, leading to HED.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Agriculture, Dairy & Animal Science
Donal O'Toole, Irene M. Haefliger, Fabienne Leuthard, Brant Schumaker, Lynn Steadman, Brian Murphy, Cord Droegemueller, Tosso Leeb
Summary: The article describes a case of ECTD1-like syndrome in five Red Angus-Simmental bull calves born over a six-year period in a herd in the Western United States. The calves exhibited severe hypotrichosis and oligodontia. Skin histopathology revealed small-caliber hair follicles with a slightly higher density in the affected animals. Whole-genome sequencing identified a deletion involving part of the EDA gene, which is likely the cause of this genetic skin disorder.
Article
Biochemistry & Molecular Biology
Holm Schneider, Christine Schweikl, Florian Faschingbauer, Smail Hadj-Rabia, Pascal Schneider
Summary: X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare developmental disorder that affects sweat glands, teeth, and hair. Treatment with recombinant EDA1 protein can help improve sweat gland development and sweating ability, as well as promote tooth growth.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Laura Koerber, Holm Schneider, Nicole Fleischer, Sigrun Maier-Wohlfart
Summary: In this study, it was found that the large variability of symptoms in affected female XLHED patients was not explainable by the pathogenic variants. The cohort showed no higher rate of nonrandom X-chromosome inactivation in peripheral blood leukocytes than the general female population. Additionally, skewed X-chromosome inactivation patterns in favor of mutated alleles were not associated with more severe phenotypes.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Medicine, General & Internal
Zainab S. Gilitwala, Shalmali R. Satpute
Summary: Hypohidrotic ectodermal dysplasia (HED) is a genetic condition that affects the development of the skin, hair, and teeth. We present a case of a 2-month-old male infant with a family history of ectodermal dysplasia. By sharing this case, we aim to raise awareness about the importance of timely detection, diagnosis, and treatment of this condition.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)