Evidence map›Paper›PMID 40781288›Full record

ArticleBMC pregnancy and childbirth2025

A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.

Limin Yao, Lilan Wan, Yunhong Lin, Yinhong Zhang, Xilun Cai, Jianhong Ye, Guangyu He, Baosheng Zhu, Jinman Zhang

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC pregnancy and childbirth, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
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1 · What the graph read from it

What it found

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Limin Yao *Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
Lilan Wan *Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
Yunhong LinDepartment of Prosthodontics, The Affiliated Stomatological Hospital of Kunming Medical University, Kunming, Yunnan, 650100, China.
Yinhong ZhangDepartment of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
Xilun CaiDepartment of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
Jianhong YeDepartment of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
Guangyu HeDepartment of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
Baosheng ZhuDepartment of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
Jinman ZhangDepartment of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China. 171887587@qq.com.

Funding

Doctor Foundation of the First People's Hospital of Yunnan province. KHBS-2022-016National Natural Area Foundation Project: Study on the association and role of key intestinal flora and its metabolites with the risk of preeclampsia based on birth cohort. 82260645Yunnan Provincial Department of Science and Technology - Kunming Medical University Joint Special Project on Applied Basic Research. 202201AY070001-226
6 · The paper itself

Abstract

backgroundHypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder that affects the development of the skin, hair, nails, teeth, and sweat glands. Due to its rarity, there are currently few methods that can be applied to facilitate its diagnosis during the prenatal period. Although a prenatal ultrasonographic examination will detect early signs of the disease, there are few reports on specific prenatal ultrasonographic features of ectodermal dysplasia. Genetic diagnosis can confirm the disease, but the numerous gene variants that cause ectodermal dysplasia have not been fully identified. CASE PRESENTATION: Our case was a multiparous woman carrying a single male fetus who underwent a fetal ultrasound examination at 23 weeks of gestation. The examination revealed thin alveolar bone, with no presence of hypoechoic tooth germ tissue in both the upper and lower alveolar bones. The seven-year-old male proband in this family manifested a clinical phenotype of sparse hair and underdeveloped teeth, and trio-based whole-exome sequencing (WES) performed on both parents and the proband revealed a novel and likely pathogenic variant of the EDA gene (NM_001399.4: c.806G > T, p.Gly269Val) associated with X-linked HED (XLHED; OMIM:305100). Based on the results of the fetal ultrasound examination and the results of the proband's genetic testing, the couple ultimately decided to terminate the pregnancy. The DNA of the fetal skin tissue after the induced abortion was extracted for Sanger sequencing, and it was confirmed that the fetus possessed ectodermal dysplasia generated by the afore-mentioned EDA gene mutation.

conclusionsOur study suggested that prenatal ultrasonography constituted an effective method for screening ectodermal dysplasia during pregnancy. In addition, our findings expanded the range of EDA variants in XLHED patients; and this discovery may now assist potential patients in receiving an accurate diagnosis, allowing them to make appropriate reproductive decisions.

Indexed as

Ectodermal Dysplasia 1, AnhidroticEctodysplasinsChildChinaEast Asian PeopleExome SequencingFemaleHumansMalePedigreePregnancyUltrasonography, PrenatalEctodysplasinsEDA protein, humanEDA c.806G > THypohidrotic ectodermal dysplasiaPrenatal ultrasound screeningWhole-exome sequencing

Identifiers

PMID40781288
PMCPMC12333194

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.