Hypodontia, X-Linked

Last update 01 Nov 2024

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Hypodontia, X-linked, Hypodontia，X-Linked, X-linked hypodontia

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100 Clinical Results associated with Hypodontia, X-Linked

100 Translational Medicine associated with Hypodontia, X-Linked

0 Patents (Medical) associated with Hypodontia, X-Linked

Literatures (Medical) associated with Hypodontia, X-Linked

09 Sep 2021·Stem Cells InternationalQ3 · MEDICINE

Functional Analysis of Ectodysplasin-A Mutations in X-Linked Nonsyndromic Hypodontia and Possible Involvement of X-Chromosome Inactivation

Q3 · MEDICINE

ArticleOA

Author: Pan, Yuhua ; Xiong, Fu ; Wu, Buling ; Lu, Ting ; Peng, Ling ; Yao, Xinchen ; Huang, Xiangyu ; Zeng, Qi

Background. Mutations of the Ectodysplasin-A (EDA) gene are generally associated with syndrome hypohidrotic ectodermal dysplasia or nonsyndromic tooth agenesis. The influence of EDA mutations on dentinogenesis and odontoblast differentiation has not been reported. The aim of this study was to identify genetic clues for the causes of familial nonsyndromic oligodontia and explore the underlying mechanisms involved, while focusing on the role of human dental pulp stem cells (hDPSCs). Materials and Methods. Candidate gene sequences were obtained by PCR amplification and Sanger sequencing. Functional analysis was conducted, and the pathogenesis associated with EDA mutations in hDPSCs was investigated to explore the impact of the identified mutation on the phenotype. Capillary electrophoresis (CE) was used to detect X-chromosome inactivation (XCI) in the blood of female carriers. Results. In this study, we identified an EDA mutation in a Chinese family: the missense mutation c.1013C>T (Thr338Met). Transfection of hDPSCs with a mutant EDA lentivirus decreased the expression of EDA and dentin sialophosphoprotein (DSPP) compared with transfection of control EDA lentivirus. Mechanistically, mutant EDA inhibited the activation of the NF-κB pathway. The CE results showed that symptomatic female carriers had a skewed XCI with a preferential inactivation of the X chromosome that carried the normal allele. Conclusions. In summary, we demonstrated that EDA mutations result in nonsyndromic tooth agenesis in heterozygous females and that, mechanistically, EDA regulates odontogenesis through the NF-κB signalling pathway in hDPSCs. Due to the large heterogeneity of tooth agenesis, this study provided a genetic basis for individuals who exhibit similar clinical phenotypes.

01 Aug 2018·Genetic Testing and Molecular BiomarkersQ4 · BIOLOGY

Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia

Q4 · BIOLOGY

Article

Author: Zhao, Xiuli ; Hua, Rui ; Yang, Wei ; Liu, Yanshan ; Liu, Yaping ; Huang, Yingzhi ; Zhang, Xue

BACKGROUNDAs the most common form of ectodermal dysplasia (ED), X-linked hypohidrotic ED (XLHED) is characterized by the triad of hypohidrosis, hypotrichosis, and anodontia in male patients. The gene responsible for XLHED is EDA. To date, more than 300 mutations have been identified in this gene, including point mutations, deletions, and insertions. Most of the mutations result in XLHED, while the rest cause X-linked dominant incisor hypodontia.OBJECTIVEMutation screening was performed in seven Chinese families with XLHED.RESULTSMutations were identified in all seven families, including four previously reported missense mutations (p.M1T, p.R156C, p.G299S, and p.A349T) and three novel mutations; missense mutation (p.Q358 L), indel (P228Tfs*52), as well as a large deletion.CONCLUSIONOur results extend the mutational spectrum of EDA and can be helpful with genetic counseling and prenatal diagnosis for these families.

01 Dec 2010·International Journal of DermatologyQ4 · MEDICINE

A novel missense mutation in the ectodysplasin‐A (EDA) gene underlies X‐linked recessive nonsyndromic hypodontia

Q4 · MEDICINE

Article

Author: Fazal ur-Rehman ; Masoom Yasinzai ; Muhammad Ayub ; Wasim Ahmad

AbstractBackground Nonsyndromic hypodontia or congential absence of one or more permanent teeth is a common anomaly of dental development in humans. This condition may be inherited in an autosomal (dominant/recessive) or X‐linked (dominant/recessive) mode. Mutations in three genes, PAX9, MSX1, and AXIN2, have been determined to be associated with autosomal dominant and recessive tooth agenesis. Recent studies in a few families showed that mutations in the ectodysplasin A (EDA) gene result in X‐linked nonsyndromic hypodontia.Methods Genotyping of a five‐generation Pakistani family with X‐linked isolated hypodontia having three affected men was carried out using EDA‐linked polymorphic microsatellite markers on chromosome Xq12‐q13.1. To screen for a mutation in the EDA gene, all of its coding exons and splice junction sites were PCR amplified from genomic DNA of affected and unaffected individuals of the family and sequenced directly in an ABI Prism 310 automated DNA sequencer.Results We successfully mapped the affected locus to chromosome Xq12‐q13.1, and found a novel missense mutation (c.993G>C) in the EDA gene in the affected men. The mutation causes substitution of glutamine with histidine (p.Q331H) in the tumor necrosis factor homology domain of EDA.Conclusions A mutation identified in this study extends the body of evidence implicating the EDA gene in X‐linked nonsyndromic hypodontia and supports the role of EDA‐EDAR‐EDARADD signaling in the morphogenesis of teeth.

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Hypodontia, X-Linked

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