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
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
Medicine, General & Internal
Junting Huang, Kailai Nie, Xinpin Lv, Yuting Liu, Guiqi Yang, Junjiang Fu, Longqian Liu, Hongbin Lv
Summary: This case report presents the clinical features and genetic findings of a rare case of Weill-Marchesani syndrome 4 (WMS4). The patient exhibited progressive myopia, thickened lenses, and shorter equatorial diameter, along with brachydactyly and increased intraocular pressure. Genetic testing confirmed the diagnosis of WMS4. During a 3-year follow-up, lens thickness continued to increase and intraocular pressure rose, highlighting the importance of early diagnosis and intervention for better visual outcomes.
FRONTIERS IN MEDICINE
(2023)
Article
Health Care Sciences & Services
ZhiHong Lin, MinJuan Zhu, HongWei Deng
Summary: Weill-Marchesani syndrome (WMS) is an autosomal inherited connective tissue disease characterized by eye abnormalities and short stature. This case report presented a patient with a WMS-like syndrome due to a mutation in the LTBP2 gene, which has not been previously documented in East Asia.
RISK MANAGEMENT AND HEALTHCARE POLICY
(2021)
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: Using a genome-wide association study, researchers identified a SNP variant (rs2054564) in the ADAMTS17 gene associated with susceptibility to lumbar spondylosis. Replication analysis in Japanese and Korean cohorts confirmed this association. The study also provided evidence of the involvement of the ADAMTS17-fibrillin network in intervertebral disc function and the role of FBN1 in lumbar spondylosis development.
SCIENTIFIC REPORTS
(2023)
Article
Genetics & Heredity
Julia Vodopiutz, Lisa-Maria Steurer, Florentina Haufler, Franco Laccone, Dorota Garczarczyk-Asim, Matthias Hilkenmeier, Philipp Steinbauer, Andreas R. Janecke
Summary: SHOX deficiency is a common genetic cause of short stature. It can lead to Leri-Weill dyschondrosteosis and nonspecific short stature. This study reports the pseudo-autosomal recessive inheritance of Leri-Weill dyschondrosteosis in two siblings caused by a novel homozygous non-canonical splice-site variant in the SHOX gene. This study expands the understanding of the molecular and inheritance spectrum of SHOX deficiency.
Article
Endocrinology & Metabolism
Nina Makretskaya, Natalia Kalinchenko, Inna Tebieva, Sofya Ionova, Rena Zinchenko, Andrey Marakhonov, Anatoly Tiulpakov
Summary: This study found a high frequency of the p.Trp230(star) variant in Ossetians with congenital adrenal hyperplasia caused by 3 beta-HSD deficiency. The variant was found in 8 heterozygous carriers out of 339 individuals tested, suggesting a founder effect.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Genetics & Heredity
Ziying Yang, Minhong Huang, Xiuxiu Wei, Jun Sun, Fuping Zhang
Summary: This study reports a child with bilateral nonsyndromic sensorineural hearing loss, and a novel deep-intronic variant inherited from the patient's mother was identified by whole-genome sequencing. The genetic test results provided precise genetic counseling and prenatal diagnosis, expanding the variant spectrum of the PCDH15 gene and supporting the extremely low carrier frequency of c.733C>T in the Chinese population.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Genetics & Heredity
Michaela Drogemuller, Nadine Klein, Rikke Lill Steffensen, Miriam Keiner, Vidhya Jagannathan, Tosso Leeb
Summary: A female Lagotto Romagnolo dog and her offspring with polycystic kidney disease (PKD) were studied. The affected dogs showed no clinical symptoms but had renal cysts detected by sonography. Whole genome sequencing analysis revealed a de novo heterozygous nonsense variant in the PKD1 gene, which is predicted to truncate the wild-type PKD1 protein. The finding suggests that this mutation is the cause of PKD in the affected dogs and may serve as an animal model for similar diseases in humans.
Article
Genetics & Heredity
Leman Damla Kotan, Melek Yildiz, Ihsan Turan, Can Celiloglu, Bilgin Yuksel, Ali Kemal Topaloglu
Summary: Kallmann syndrome (KS) is a rare genetic disease characterized by pubertal failure and olfactory defects. In this study, a 14-year-old Kurdish boy with KS was found to have a novel homozygous nonsense variant in the NDNF gene. The study provides evidence that inactivating mutations in NDNF cause KS and highlights the complex inheritance of the disease.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Hematology
Ana Marin-Quilez, Elena Vuelta, Lorena Diaz-Ajenjo, Cristina Fernandez-Infante, Ignacio Garcia-Tunon, Rocio Benito, Veronica Palma-Barqueros, Jesus Maria Hernandez-Rivas, Jose Ramon Gonzalez-Porras, Jose Rivera, Jose Maria Bastida
Summary: This study characterizes the clinical and laboratory phenotypes in a pedigree with thrombocytopenia of uncertain etiology, and identifies the underlying molecular alteration.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2022)
Article
Pediatrics
Minsun Kim, Seung Yeob Lee, Namsu Kim, Jaehyeon Lee, Dal Sik Kim, Joonhong Park, Yong Gon Cho
Summary: This study identified compound heterozygosity in the PKLR gene as the cause of severe PK deficiency in a 7-year-old girl, emphasizing the importance of complete CNV analysis and gene dosage assays in patients suspected of PK deficiency.
FRONTIERS IN PEDIATRICS
(2022)