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Genetics & Heredity
Xiuqin Bao, Danqing Qin, Jicheng Wang, Jing Chen, Cuize Yao, Jie Liang, Kailing Liang, Yixia Wang, Yousheng Wang, Li Du, Aihua Yin
Summary: This study identified two novel deletion mutations in two unrelated families with beta-thalassemia, expanding the spectrum of variants in the Chinese population and providing theoretical guidance for prenatal diagnosis.
Article
Clinical Neurology
Chengcheng Guan, Xinhui Gan, Chengqing Yang, Mingji Yi, Ying Zhang, Shiguo Liu
Summary: This study identified four mutations in NPC1 in two patients from different families, enriching the NPC1 mutation and phenotype spectrum, and providing a new basis for the genetic and prenatal diagnosis of Niemann-Pick disease type C.
NEUROLOGICAL SCIENCES
(2022)
Article
Genetics & Heredity
Xiumin Chen, Feiyue Zhao, Yiming Xu, Yixuan Cao, Shan Li, Xue Zhang, Xiuli Zhao
Summary: In this study, mutations in the HOXD13 gene were discovered in four unrelated Chinese families with limb malformations. A previously unobserved phenotype of preaxial polydactyly in both hands was also noted. The study also found that the number of inclusion bodies formed increased with the expansion of the polyalanine repeat, indicating an enriched understanding of the pathogenic mechanisms of SPD.
FRONTIERS IN GENETICS
(2023)
Article
Medicine, Research & Experimental
Jie Zheng, Xiaowei Xu, Xinjie Zhang, Xuetao Wang, Jianbo Shu, Chunquan Cai
Summary: This study analyzed pathogenic CAPN3 gene variants in two Chinese families affected by LGMD2A, indicating that the compound heterogeneous variants of the CAPN3 gene were likely responsible for the disease in these families.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2021)
Article
Anatomy & Morphology
Bailing Zu, Zhigang Wang, Yunlan Xu, Guoling You, Qihua Fu
Summary: This study identified two nonframeshifting mutations of HOXD13 polyalanine repeat location in two Chinese families with postaxial polydactyly or postaxial syndactyly through whole exome sequencing. These mutations led to truncation or expansion of Poly-Ala repeats of HOXD13 proteins and resulted in conformational changes according to three-dimensional structural analysis. The findings provide new insights into genetic counseling and clinical management.
DEVELOPMENTAL DYNAMICS
(2021)
Article
Genetics & Heredity
Ting Guo, Chenyang Lu, Danhui Yang, Cheng Lei, Ying Liu, Yingjie Xu, Binyi Yang, Rongchun Wang, Hong Luo
Summary: This study identified a novel pathogenic variant associated with DNAAF4 in two patients with PCD and established a link between DNAAF4 and asthenoteratozoospermia and likely scoliosis in PCD patients.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Yui Tada, Kodai Kume, Soma Noguchi, Tomoko Sekiya, Kazuto Nishinaka, Hiroshi Ishiguchi, Jinsoo Koh, Seiji Emori, Yoshiaki Nakayama, Takashi Kurashige, Yuishin Izumi, Hidefumi Ito, Norio Sakai, Hideshi Kawakami
Summary: Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant disorder caused by variants of the PRKCG gene encoding protein kinase C gamma (PKC gamma). In this study, two families with SCA14 were analyzed, and two novel variants of PRKCG were identified. Both variants resulted in aggregation of PKC gamma in the cytoplasm, but the solubility changes differed between the two variants, which may contribute to the difference in severity observed between the two families.
JOURNAL OF HUMAN GENETICS
(2022)
Article
Genetics & Heredity
Xiaofang Shen, Shun Zhang, Xin Zhang, Taifeng Zhou, Yongjun Rui
Summary: This study identified two variants in the GLI3 gene that are associated with polydactyly and syndactyly, leading to truncation and degradation of the GLI3 protein and affecting SHH signaling.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Ophthalmology
Moxin Chen, Rui Huang, Yingjie Zhang, Deyi Jasmine Zhu, Qin Shu, Pengcheng Xun, Jing Zhang, Ping Gu, Lin Li
Summary: This study aimed to investigate the genetic characteristics and clinical manifestations of CFEOM1 in Chinese families. Through the analysis of clinical data and gene mutations of patients, hotspot mutations were found to be common in Chinese CFEOM1 families. Furthermore, germline mosaicism was identified as a possible cause in families with affected individuals without KIF21A mutations.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2023)
Article
Dermatology
Fang Yang, Xingyuan Jiang, Yuhao Zhu, Mingyang Lee, Zhengren Xu, Jianglin Zhang, Qian Li, Mao-Ying Lin, Huijun Wang, Zhimiao Lin
Summary: This study identified LSS gene variants associated with palmoplantar keratoderma-congenital alopecia syndrome type 2, resulting in loss of enzymatic activity and abnormal cornified envelope formation. These findings highlight the importance of the cholesterol synthesis pathway in human skin cornification.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2022)
Article
Dermatology
Yumeng Wang, Jianbo Wang, Yue Li, Chaolan Pan, Wange Zhou, Qiaoyu Cao, Zhirong Yao, Jianwen Han, Ming Li
Summary: Palmoplantar keratoderma Bothnia type (PPKB) is caused by AQP5 pathogenic variants. The mechanisms of this disease and the genotype-phenotype correlation are still not fully understood. We report two pedigrees with PPKB caused by a recurrent variant c.367A>T and a novel variant c.530T>A in the AQP5 gene, respectively. We also found that there seemed to be no significant genotype-phenotype correlation of this disease. Moreover, the patient's epidermis had strong proliferation and immature differentiation potential, recognizing the possible important role of TRPV4 in the pathogenesis of PPKB.
JOURNAL OF DERMATOLOGY
(2022)
Article
Genetics & Heredity
Hai-Lin Dong, Jia-Qi Li, Gong-Lu Liu, Hao Yu, Zhi-Ying Wu
Summary: The SORD gene has been identified as a causative gene for dHMN, with two novel variants and one known variant found in four Chinese dHMN families. Functional studies confirmed the pathogenicity of these variants.
NPJ GENOMIC MEDICINE
(2021)
Article
Genetics & Heredity
Rashmi Patel, Subodh Kumar Singh, Visweswar Bhattacharya, Akhtar Ali
Summary: This study identified pathogenic variants in HOXD13 in syndactyly type 1b and type 1c, as well as a TP63 pathogenic variant in ECLP, expanding the clinical spectrum of disorders related to these genes.
JOURNAL OF HUMAN GENETICS
(2022)
Article
Genetics & Heredity
Huizhen Fan, Zhou Zhou, Wei Zheng, Yichun Guan, Qingxia Meng, Wenjing Wang, Jie Dong, Liuxia Wan, Jiawei Zhu, Yang Zeng, Ruyi Liu, Hao Gu, Ge Lin, Biaobang Chen, Qing Sang, Lei Wang
Summary: In this study, two variants in the CDC23 gene were found to be responsible for female infertility characterized by oocyte maturation defects. In vitro and in vivo experiments showed that these variants led to decreased CDC23 protein level, changed localization, and resulted in the accumulation of specific proteins in oocytes. These findings highlight the important roles of CDC23 in human oocyte maturation and provide a new genetic marker for female infertility.
Article
Endocrinology & Metabolism
Hui Yu, Xiao Shi, Zhongmei Shao, Hao Geng, Senzhao Guo, Kuokuo Li, Meng Gu, Chuan Xu, Yang Gao, Qing Tan, Zongliu Duan, Huan Wu, Rong Hua, Rui Guo, Zhaolian Wei, Ping Zhou, Yunxia Cao, Xiaojin He, Liang Li, Xiaoping Zhang, Mingrong Lv
Summary: This study identified mutations in the HYDIN gene associated with asthenoteratozoospermia, and found that ICSI could assist patients with these mutations in achieving pregnancy.
FRONTIERS IN ENDOCRINOLOGY
(2023)