Aug 2026· Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics· Vol 43 8, pp.
606-612
· 0 citations
Medicine
TL;DR
A de novo TPM1 variant c.82_84del (p.Asp28del) is identified as a novel cause of pediatric DCM, which has also enriched the mutational spectrum of TPM1-associated cardiomyopathy.
The patient had developed unsteady gait 6 months before without clear cause, manifesting as a feeling of heaviness in the head and lightness in the feet, a sensation of walking on cotton wool when standing or walking, and the detection of the novel variant has enriched the mutational spectrum of the JAM2 gene.
Qian Ma, Wen-Jun Shao, Yi-Wei Wang et al.· Zhonghua yi xue yi chuan xue...· 0 citations
The mutational spectrum of KMT2B is expands the mutational spectrum of KMT2B and provides additional evidence to support the genetic diagnosis and counseling of patients with KMT2B-related dystonia.
Wenlong Shen, Xiaopan Chen, Yajie Yuan et al.· Global Medical Genetics· 0 citations
Findings have enriched the mutational spectrum of the FBN1 gene among Chinese MFS patients and provided a basis for the genetic counseling and clinical management.
Ren-Hua Wu, Lei Sun, Bao-Zhu Liu et al.· Zhonghua yi xue yi chuan xue...· 0 citations
The cohort highlights novel findings, including the co-occurrence of AD LZTR1-NS with 22q11.2 deletion and two patients with AR NS with features suggestive of schwannomatosis, which expand the clinical spectrum of LZTR1-NS and have important implications for diagnosis, surveillance, and genetic counseling.
H. Jaouadi, Şakir Hicazi, Carolyn R. Raski et al.· American Journal of Medical...· 0 citations
The c.394C>G compound heterozygous variants of the MED25 gene probably underlay the pathogenesis of BVSYS in this child, and was predicted to be deleterious by in silico analysis.
Yong Zhao, Nuo Li, Yu Han et al.· Zhonghua yi xue yi chuan xue...· 0 citations
This case suggests that a MYH6 VUS may be associated with a severe and rapidly progressive DCM phenotype in specific clinical contexts, and long-term multimodality imaging follow-up and assessment of device therapy response are critical for individualized management of VUS carriers.
Jing-Wen Deng, Xiaoting Li, Taihao Wang et al.· Frontiers in Cardiovascular...· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.
