Hidrotic ectodermal dysplasia (HED) is a rare inherited syndrome characterised by nail dystrophy, palmoplantar hyperkeratosis and alopecia. Four mutations (p.G11R, p.A88V, p.V37E and p.D50N) in gap junction beta 6 (GJB6) gene, which codes connexin30 protein, have been found to cause HED in different populations. Here, we reported a big Chinese family in which 24 patients over five generations were suffered with HED. Sequence analysis identified all 24 patients carry a recurrent missense mutation c.263C > T (p.A88V) in GJB6. Our results reveal gene testing of GJB6 is important for diagnosis, prenatal diagnosis and future gene treatment of HED.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446134 | PMC |
| http://dx.doi.org/10.1186/s41065-020-00148-8 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The use of large language models in detecting Chinese ultrasound report errors.
NPJ Digit Med
January 2025
Department of Diagnostic Ultrasound Imaging & Interventional Therapy, Zhejiang Cancer Hospital, Hangzhou, Zhejiang, China.
This retrospective study evaluated the efficacy of large language models (LLMs) in improving the accuracy of Chinese ultrasound reports. Data from three hospitals (January-April 2024) including 400 reports with 243 errors across six categories were analyzed. Three GPT versions and Claude 3.
View Article and Find Full Text PDFBig Heart, Small Shoes: Heart Failure in Systemic Lupus Erythematosus, More Than Lupus Cardiac Involvement.
CJC Open
January 2025
Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College; National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology; State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital; Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
Psychometric Properties of Chinese Version of the Multiple Intelligence Scale (MIS) Among Older Adults: Rasch Analysis and Confirmatory Factor Analysis.
J Appl Gerontol
January 2025
Institute of Allied Health Sciences, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Unlabelled: The present study utilized advanced psychometric methods (i.e., Rasch analysis and confirmatory factor analysis [CFA]) to evaluate the factor structure of the Multiple Intelligence Scale (MIS) and its validity among Taiwanese older adults.
View Article and Find Full Text PDFSingle-cell transcriptomics identify a novel macrophage population associated with bone invasion in pituitary neuroendocrine tumors.
J Exp Clin Cancer Res
January 2025
Beijing Neurosurgical Institute, Capital Medical University, Beijing, 100070, China.
Background: Bone-invasive Pituitary Neuroendocrine Tumors (BI PitNETs) epitomize an aggressive subtype of pituitary tumors characterized by bone invasion, culminating in extensive skull base bone destruction and fragmentation. This infiltration poses a significant surgical risk due to potential damage to vital nerves and arteries. However, the mechanisms underlying bone invasion caused by PitNETs remain elusive, and effective interventions for PitNET-induced bone invasion are lacking in clinical practice.
View Article and Find Full Text PDFSleep characteristics and intervertebral disc degeneration risk: an observational and Mendelian randomization study.
Eur Spine J
January 2025
Department of Orthopedics, the Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen, 518000, Guangdong, China.
Objectives: Sleep disorders are considered a risk factor for aging and skeletal degeneration, but their impact on intervertebral disc degeneration (IDD) remains unclear. The aim of this study was to assess associations between sleep characteristics and IDD, and to identify potential causal relationships.
Methods: Exposure factors included six unhealthy sleep characteristics: insomnia, short sleep duration (< 7 h), long sleep duration (≥ 9 h), evening chronotype, daytime sleepiness, and snoring.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!