Article
Biochemistry & Molecular Biology
Zerina Balic, Saurav Misra, Belinda Willard, Dieter P. Reinhardt, Suneel S. Apte, Dirk Hubmacher
Summary: ADAMTS proteases play important roles in the biosynthesis and breakdown of ECM molecules, with alternative splicing playing a significant role in regulating their proteolytic activity and cellular localization. This study characterizes the impact of alternative splicing on ADAMTS17, revealing two novel splice variants that affect protease activity through structural changes.
Article
Ophthalmology
Dongwei Guo, Liyan Liu, Fengmei Yang, Charlotte Aimee Young, Danying Zheng, Guangming Jin
Summary: This study identified six novel ADAMTS17 mutations in four Weill-Marchesani syndrome probands. These mutations caused significant short stature and possible heart disease in the patients. This study not only reported the characteristics of ADAMTS17 mutation-related WMS but also helped to recognize the genotype-phenotype correlations in these patients.
EXPERIMENTAL EYE RESEARCH
(2023)
Article
Ophthalmology
Na Miao, Yao Zhang, Jin-Ying Liao, Lin Zhou, Ji-Cai He, Rong-Qin Yang, Xu-Yang Liu, Li Tang
Summary: This study aimed to explore the phenotype and genotype of Weill-Marchesani syndrome (WMS) in a Chinese family and review related literature. Through medical history, comprehensive ophthalmic examinations, systemic evaluation, and genetic analysis, a homozygous missense mutation in ADAMTS17 gene was identified in three affected siblings, indicating an autosomal recessive inherited manner of WMS. This study expands the knowledge of WMS-associated mutations and deepens understanding of the pathology associated with ADAMTS17 variants.
INTERNATIONAL JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Genetics & Heredity
Yuan Jin, Xiao-Zhou Liu, Le Xie, Wen Xie, Sen Chen, Yu Sun
Summary: Hearing loss is a common congenital sensory impairment, with genetic causes being a significant factor. A study found that mutations in the PTPRQ gene are associated with hereditary sensorineural hearing loss, providing insights into the relationship between genotype and hearing phenotype and aiding in clinical management and genetic counseling.
FRONTIERS IN GENETICS
(2022)
Article
Clinical Neurology
Zhanjun Wang, Yang Song, Wenjia Zhu, Xianling Wang, Xuying Li, Fanxi Xu, Lianghao Si, Tingyan Yao, Junge Zhu, Hong Lai, Wei Li, Feng Lin, Chaodong Wang
Summary: This study reported a Chinese PPS family with a novel FBXO7 homozygous mutation, expanding the mutational spectrum of early-onset Parkinson's disease caused by FBXO7 mutations.
PARKINSONISM & RELATED DISORDERS
(2021)
Article
Genetics & Heredity
Hammad Yousaf, Ambrin Fatima, Zafar Ali, Shahid M. Baig, Mathias Toft, Zafar Iqbal
Summary: This study reports a novel pathogenic variant in the GRM1 gene in a consanguineous Pakistani family with partially overlapping clinical features of SCAR13. In addition, the family presented quadrupedal gait and non-progressive symptoms, which have not been recognized previously.
Article
Genetics & Heredity
Umi Tahara, Masahito Yasuda, Yozo Yamada, Satomi Aoki, Showbu Sato, Masayuki Amagai, Akiharu Kubo
Summary: Mutations in FGFR3 can cause familial acanthosis nigricans, with the c.2302G>T (p.E768*) mutation being a unique autosomal dominant nonsense mutation.
JOURNAL OF HUMAN GENETICS
(2021)
Article
Genetics & Heredity
Ying Su, Chun-Qiong Ran, Zhe-Long Liu, Yan Yang, Gang Yuan, Shu-Hong Hu, Xue-Feng Yu, Wen-Tao He
Summary: This article describes a case of a 29-year-old Chinese male with non-ocular Stickler syndrome (OSMED). Compound heterozygous mutations in the COL11A2 gene were detected, including two variants predicted to be splicing mutations. The article highlights the importance of whole-genome sequencing for precise diagnosis and genetic counseling in patients suspected of Stickler syndrome.
FRONTIERS IN GENETICS
(2023)
Article
Multidisciplinary Sciences
Yuki Taniguchi, Toru Akune, Nao Nishida, Go Omori, H. A. Kim, Kazuko Ueno, Taku Saito, Takeshi Oichi, Asako Koike, Akihiko Mabuchi, Hiroyuki Oka, Shigeyuki Muraki, Yasushi Oshima, Hiroshi Kawaguchi, Kozo Nakamura, Katsushi Tokunaga, Sakae Tanaka, Noriko Yoshimura
Summary: A genome-wide association study identified a common SNP variant in ADAMTS17 associated with susceptibility to lumbar spondylosis, and the potential role of ADAMTS17-fibrillin network in intervertebral disc function in lumbar spondylosis development was demonstrated.
SCIENTIFIC REPORTS
(2023)
Article
Genetics & Heredity
Mojiang Li, Yingshu Li, Huixing Liu, Haiyan Zhou, Wanqin Xie, Qinghua Peng
Summary: This study describes a patient with a homozygous ADAMTSL2 p.Gly656Ser variant, further increasing our understanding of the genotype-phenotype correlation in acromelic dysplasias.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Nannan Qian, Taohua Wei, Wenming Yang, Jiuxiang Wang, Shijie Zhang, Shan Jin, Wei Dong, Wenjie Hao, Yue Yang, Ru Huang
Summary: ARCA-1 (or SCAR8) is a hereditary cerebellar ataxia caused by SYNE1 gene mutation. Its clinical features are primarily characterized by cerebellar ataxia and may be accompanied by upper and/or lower motor neuron dysfunction.
FRONTIERS IN GENETICS
(2022)
Article
Dermatology
R. Mo, M. Lin, M. Lee, W. Yan, H. Wang, Z. Lin
Summary: The study identified two novel homozygous mutations in the KRT1 gene in Chinese patients with EPPK and knuckle pads. The upregulation of Keratin 2 was found to be a possible compensatory effect in sparing non-acral skin.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Fansi Zeng, Wenzhen Qin, Feifei Huang, Pingan Chang
Summary: The stratum corneum of the epidermis acts as a crucial permeability barrier, and unique ceramides, particularly omega-O-acylceramides, play a key role in its formation. The function of PNPLA1, an enzyme involved in acylceramide synthesis, was a mystery until it was found to be associated with autosomal-recessive congenital ichthyosis (ARCI). PNPLA1 mutations lead to decreased acylceramide levels and impaired skin barrier function.
Article
Biochemistry & Molecular Biology
Hussein Algahtani, Bader Shirah, Ikram Ullah, Mohammad H. Al-Qahtani, Angham Abdulrahman Abdulkareem, Muhammad Imran Naseer
Summary: This study reported the clinical features and genetic diagnosis of autosomal recessive cerebellar ataxia with spasticity caused by a rare mutation in the GBA2 gene in a large consanguineous Saudi family. The homozygous variant c.2618G>A was identified in affected members of the family through whole exome sequencing and Sanger sequencing. The identified mutation causes loss of function and is classified as pathogenic, contributing further evidence to support its pathogenicity.
Article
Dermatology
Shengru Zhou, Xingyuan Jiang, Yuhao Zhu, Jianqiu Yang, Chunyu Yuan, Min Chen, Qianqian Zhou, Zhimiao Lin, Min Li
Summary: This study investigates the contribution of LSS mutations to mutilating palmoplantar keratoderma (PPK) in a Chinese patient. Biallelic variants were identified in the LSS gene, and experiments showed a correlation between these mutations and the disease.
EXPERIMENTAL DERMATOLOGY
(2023)
Article
Infectious Diseases
Zeshuai Deng, Qing Li, Haoan Yi, Yanjie Zhang, Fang Yang, Hong Li, Lan Luo, Limei Ma, Zhaoqing Yang, Yongshu He, Liwang Cui
JOURNAL OF INFECTION
(2018)
Article
Infectious Diseases
Haoan Yi, Hong Li, Luxin Liang, Yanrui Wu, Lu Zhang, Wanfang Qiu, Weiyang Jiang, Fang Yang, Qing Li, Zhaoqing Yang, Chengqi Wang, Liwang Cui, Yongshu He
INFECTION GENETICS AND EVOLUTION
(2019)