Aug 2026· Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics· Vol 43 8, pp.
586-591
· 0 citations
Medicine
TL;DR
This study has diagnosed a case of developmental and epileptic encephalopathy 32 by WGS and enriched the mutational spectrum of the KCNA2 gene and provided guidance for preimplantation genetic testing and counseling for the pedigree.
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
The c.2267G>A (p.Arg756His) variant of the ATP1A3 gene probably underlay the pathogenesis of RECA in this proband and has enriched the variant spectrum of the ATP1A3 gene and the clinical phenotype spectrum of patients with ATP1A3 gene-associated RECA.
Yun Zhou, Lu-Lu Yan, Minghai Huang et al.· Zhonghua yi xue yi chuan xue...· 0 citations
It is demonstrated that even in the absence of functional experiments, comprehensive family analysis can provide crucial clues for variant of uncertain significance (VUS) interpretation.
Xiu-Lan Hao, Yan-Chou Ye, Man Liu et al.· Frontiers in 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
A literature review showed that, among 23 BVSYS patients reported between 2015 and 2025, the most common clinical manifestations were developmental delay/intellectual disability and characteristic facial features, followed by speech impairment and characteristic facial features, and cardiac anomalies.
Yong Zhao, Nuo Li, Yu Han et al.· Zhonghua yi xue yi chuan xue...· 0 citations
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