Results 1 to 10 of about 60,706 (100)

Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant [PDF]

Frontiers in Pediatrics, 2023
BackgroundA novel autosomal recessive skeletal dysplasia resulting from pathogenic variants in membrane-bound transcription factor peptidase, site 1 (MBTPS1) has been recently delineated.
Yeqing Yuan, Qiaoli Zhou, Chunli Wang, Wei Zhou, Wei Gu, Bixia Zheng   +5 more
doaj   +4 more sources

Case Report: Identification and Functional Analysis of a Homozygous Synonymous Variant in the PLOD1 Gene in a Chinese Neonatal With the Ehlers–Danlos Syndrome [PDF]

Frontiers in Pediatrics, 2022
BackgroundKyphoscoliotic Ehlers–Danlos syndrome (kEDS; OMIM225400) is a rare autosomal recessive genetic disease caused by variants in the PLOD1 gene. This research was conducted to verify the disease-causing gene in a Chinese neonatal family with the ...
Xiaodan Yan, Xiaodan Yan, Jianbo Shu, Jianbo Shu, Yanyan Nie, Ying Zhang, Ying Zhang, Ping Wang, Ping Wang, Weiwei Zhou, Weiwei Zhou, Xiaoyu Cui, Xiaoyu Cui, Yang Liu   +13 more
doaj   +4 more sources

Severe nonketotic hyperglycinaemia due to a synonymous variant [PDF]

Molecular Genetics and Metabolism Reports
Nonketotic hyperglycinaemia (NKH) is an autosomal recessive neurometabolic disorder resulting from deficient glycine cleavage system activity, causing severe neurological impairment.
Ping Pang, Lin Wan, Yan Liang, Xia Zhao, Guang Yang   +4 more
doaj   +2 more sources

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report [PDF]

BMC Medical Genetics, 2020
Background Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and splice site variants or ...
Arthur Jacob, Jennifer Pasquier, Raphael Carapito, Frédéric Auradé, Anne Molitor, Philippe Froguel, Khalid Fakhro, Najeeb Halabi, Géraldine Viot, Seiamak Bahram, Arash Rafii   +10 more
doaj   +2 more sources

Case Report: Identification of the First Synonymous Variant of Myosin Binding Protein C3 (c.24A>C, p.P8P) Altering RNA Splicing in a Cardiomyopathy and Sudden Cardiac Death Case [PDF]

Frontiers in Cardiovascular Medicine, 2022
BackgroundSudden cardiac death (SCD), based on sudden cardiac ejection cessation, is an unexpected death. Primary cardiomyopathies, including dilated cardiomyopathy (DCM), are one of main causes of SCD.
Jie-Yuan Jin, Jiao Xiao, Yi Dong, Yue Sheng, Ya-Dong Guo, Ya-Dong Guo, Ya-Dong Guo, Rong Xiang, Rong Xiang, Rong Xiang   +9 more
doaj   +2 more sources

A novel cryptic splice donor due to synonymous variant in VPS13A as an underlying cause of a chorea-acanthocytosis in a large family [PDF]

Heliyon
Chorea-acanthocytosis (ChAc) is a rare inherited disease of the nervous system. In this disease the neurological manifestations are associated with acanthocytosis of the red blood cells. The clinical features appear in the third to fourth decades of life.
Majed Alluqmani, Shahid Iqbal, Sulman Basit   +2 more
doaj   +2 more sources

Molecular characterization of a novel synonymous variant in a Mexican patient with Pompe disease [PDF]

Molecular Genetics and Metabolism Reports
Introduction: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of lysosomal acid alpha-1,4-glucosidase (GAA; EC 3.2.1.20), encoded by the GAA gene, leading to progressive neuromuscular deterioration. The mutational spectrum of
Carmen Alaez-Verson, Carlos Alberto González-Domínguez, Imelda Vergara Sanchez, Luz María Sanchez Sanchez, Ivonne Natalia Flores, Ekaterina Kazakova, Joaquin Garcia-Solorio, Carolina Molina-Garay, Luis Leonardo Flores-Lagunes, Ivan Martínez Duncker   +9 more
doaj   +2 more sources

Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism

Frontiers in Endocrinology, 2022
BackgroundCongenital iodide transport defect (ITD) is an uncommon cause of dyshormonogenic congenital hypothyroidism characterized by the absence of active iodide accumulation in the thyroid gland. ITD is an autosomal recessive disorder caused by loss-of-
Romina Celeste Geysels, Romina Celeste Geysels, Carlos Eduardo Bernal Barquero, Carlos Eduardo Bernal Barquero, Mariano Martín, Mariano Martín, Victoria Peyret, Victoria Peyret, Martina Nocent, Martina Nocent, Gabriela Sobrero, Liliana Muñoz, Malvina Signorino, Graciela Testa, Ricardo Belisario Castro, Ana María Masini-Repiso, Ana María Masini-Repiso, Mirta Beatriz Miras, Juan Pablo Nicola, Juan Pablo Nicola   +19 more
doaj   +3 more sources

Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome [PDF]

Frontiers in Genetics, 2022
Cornelia de Lange syndrome (CdLS) is an autosomal dominant or X-linked genetic disease with significant genetic heterogeneity. Variants of the NIPBL gene are responsible for CdLS in 60% of patients.
Meizhen Shi, Meizhen Shi, Yuying Liang, Bobo Xie, Bobo Xie, Xianda Wei, Xianda Wei, Haiyang Zheng, Haiyang Zheng, Chunrong Gui, Chunrong Gui, Rong Huang, Rong Huang, Xin Fan, Xin Fan, Chuan Li, Chuan Li, Xiaojiao Wei, Yunting Ma, Shaoke Chen, Shaoke Chen, Yujun Chen, Yujun Chen, Baoheng Gui, Baoheng Gui   +24 more
doaj   +2 more sources

A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report [PDF]

Frontiers in Pediatrics, 2020
Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder characterized by a wide range of clinical features, including muscle weakness, hypoglycemia, metabolic acidosis, and multisystem dysfunctions.
Guorui Hu, Jingxia Zeng, Chunli Wang, Wei Zhou, Zhanjun Jia, Jun Yang, Bixia Zheng   +6 more
doaj   +2 more sources