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Keywords = spondylocostal dysostosis

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13 pages, 1030 KiB  
Case Report
Novel Splice Variant in the HES7 Gene in Vietnamese Patient with Spondylocostal Dysostosis 4: A Case Report and Literature Review
by Ha Minh Nguyen, Nguyen Thi Kim Lien, Thinh Huy Tran, Ngoc Lan Nguyen, Suong Bang Thi Nguyen, Thi Hong Chau Bui, Nguyen Van Tung, Le Tat Thanh, Nguyen Thi Xuan, Van Khanh Tran and Nguyen Huy Hoang
Diagnostics 2025, 15(13), 1587; https://doi.org/10.3390/diagnostics15131587 - 23 Jun 2025
Viewed by 480
Abstract
Spondylocostal dysostosis (SCDO) is a group of rare genetic disorders characterized by segmental vertebral defects and rib deformities due to congenital misalignment, fusion, or reduction in the number of ribs. The causes of the disease have been found in seven genes, including DLL3 [...] Read more.
Spondylocostal dysostosis (SCDO) is a group of rare genetic disorders characterized by segmental vertebral defects and rib deformities due to congenital misalignment, fusion, or reduction in the number of ribs. The causes of the disease have been found in seven genes, including DLL3 (SCDO1, OMIM 602768), MESP2 (SCDO2, OMIM 608681), LFNG (SCDO3, OMIM 609813), HES7 (SCDO4, OMIM 608059), TBX6 (SCDO5, OMIM 602427), RIPPLY2 (SCDO6, OMIM 616566), and DLL1 (SCDO7). Among these, SCDO4, characterized by a short trunk, short neck, and mild nonprogressive scoliosis, is a rare form of reported cases. SCDO4 is identified as caused by homozygous or compound heterozygous variants in the HES7 gene (NM_001165967.2; NP_001159439.1). This study reports a novel homozygous HES7 splice variant (c.43-9T>A) detected in an SCDO4 patient by whole-exome sequencing and confirmed by Sanger sequencing. This variant was evaluated as an acceptor loss variant in intron 1 in the HES7 transcript by in silico analysis and was inherited from the patient’s parent. This study also reviews previous reports to provide a comprehensive overview of SCDO and help us to understand the pathogenesis to develop future treatment strategies. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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14 pages, 2561 KiB  
Review
Altered Cogs of the Clock: Insights into the Embryonic Etiology of Spondylocostal Dysostosis
by Ana Nóbrega, Ana C. Maia-Fernandes and Raquel P. Andrade
J. Dev. Biol. 2021, 9(1), 5; https://doi.org/10.3390/jdb9010005 - 29 Jan 2021
Cited by 10 | Viewed by 5380
Abstract
Spondylocostal dysostosis (SCDO) is a rare heritable congenital condition, characterized by multiple severe malformations of the vertebrae and ribs. Great advances were made in the last decades at the clinical level, by identifying the genetic mutations underlying the different forms of the disease. [...] Read more.
Spondylocostal dysostosis (SCDO) is a rare heritable congenital condition, characterized by multiple severe malformations of the vertebrae and ribs. Great advances were made in the last decades at the clinical level, by identifying the genetic mutations underlying the different forms of the disease. These were matched by extraordinary findings in the Developmental Biology field, which elucidated the cellular and molecular mechanisms involved in embryo body segmentation into the precursors of the axial skeleton. Of particular relevance was the discovery of the somitogenesis molecular clock that controls the progression of somite boundary formation over time. An overview of these concepts is presented, including the evidence obtained from animal models on the embryonic origins of the mutant-dependent disease. Evidence of an environmental contribution to the severity of the disease is discussed. Finally, a brief reference is made to emerging in vitro models of human somitogenesis which are being employed to model the molecular and cellular events occurring in SCDO. These represent great promise for understanding this and other human diseases and for the development of more efficient therapeutic approaches. Full article
(This article belongs to the Special Issue Advances in Development: Focus on Rare Congenital Diseases)
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