Zobrazeno 1 - 10
of 306
pro vyhledávání: '"de novo variant"'
Autor:
Chengyan Li, You Wang, Cizheng Zeng, Binglong Huang, Yinhui Chen, Chupeng Xue, Ling Liu, Shiwen Rong, Yongwen Lin
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Understanding the genetic basis of developmental delay (DD) and intellectual disability (ID) remains a considerable clinical challenge. This study evaluated the clinical application of trio whole exome sequencing (WES) in children diagnosed
Externí odkaz:
https://doaj.org/article/a789bc400cfb49e699d74fc99fe6784f
Autor:
Kazuyuki Komatsu, Mitsuhiro Kato, Kazuo Kubota, Shinobu Fukumura, Keitaro Yamada, Ikumi Hori, Kenji Shimizu, Sachiko Miyamoto, Kaori Yamoto, Takuya Hiraide, Kazuki Watanabe, Shintaro Aoki, Shogo Furukawa, Taiju Hayashi, Masaharu Isogai, Takuma Harasaki, Mitsuko Nakashima, Hirotomo Saitsu
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Variant annotations are crucial for efficient identification of pathogenic variants. In this study, we retrospectively analyzed the utility of four annotation tools (allele frequency, ClinVar, SpliceAI, and Phenomatcher) in identifying 271 p
Externí odkaz:
https://doaj.org/article/20d642f57d7841aeb22a94d0268d9ad2
Publikováno v:
Clinical Case Reports, Vol 12, Iss 11, Pp n/a-n/a (2024)
Key Clinical Message Not only germline but also postzygotic mutations in the RASA1 or EPHB4 genes can lead to capillary malformation‐arteriovenous malformation (CM‐AVM) syndrome. As it is not always possible to clinically distinguish between cons
Externí odkaz:
https://doaj.org/article/b265967a2b7e407e9fd69725bf65ae75
Autor:
Ekaterina Tolmacheva, Anna S. Bolshakova, Jekaterina Shubina, Margarita S. Rogacheva, Alexey N. Ekimov, Julia L. Podurovskaya, Artem A. Burov, Denis V. Rebrikov, Vladimir G. Bychenko, Dmitry Yu. Trofimov, Gennady T. Sukhikh
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Background Whole exome sequencing allows rapid identification of causative single nucleotide variants and short insertions/deletions in children with congenital anomalies and/or intellectual disability, which aids in accurate diagnosis, prog
Externí odkaz:
https://doaj.org/article/595c4972c1704c34ab1d35e4421f8c9a
Autor:
Mackenzie C. Batt, Leila G. Venzor, Keri Gardner, Rachel R. Reith, Kelsey A. Roberts, Nicolas J. Herrera, Anna M. Fuller, Gary A. Sullivan, J. Travis Mulliniks, Matthew L. Spangler, Stephanie J. Valberg, David J. Steffen, Jessica L. Petersen
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-14 (2024)
Abstract Background Between 2020 and 2022, eight calves in a Nebraska herd (composite Simmental, Red Angus, Gelbvieh) displayed exercise intolerance during forced activity. In some cases, the calves collapsed and did not recover. Available sire pedig
Externí odkaz:
https://doaj.org/article/59ee9842094f4ac9b84046c3172dde9d
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Spastic paraplegia type 4 (SPG4), the predominant form of Autosomal Dominant Hereditary spastic paraplegia (AD-HSP), is characterized by variants in the SPAST gene. This study reports a unique case of a late-onset SPG4 in a Han Chinese male, manifest
Externí odkaz:
https://doaj.org/article/cab1ad2e1442410bbeb5b9b648ab3877
Autor:
Toshiyuki Itai, Fangfang Yan, Andi Liu, Yulin Dai, Chihiro Iwaya, Sarah W. Curtis, Elizabeth J. Leslie, Lukas M. Simon, Peilin Jia, Xiangning Chen, Junichi Iwata, Zhongming Zhao
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100313- (2024)
Summary: Orofacial clefts (OFCs) are common congenital birth defects with various etiologies, including genetic variants. Online Mendelian Inheritance in Man (OMIM) annotated several hundred genes involving OFCs. Furthermore, several hundreds of de n
Externí odkaz:
https://doaj.org/article/d1da2bc8f18746018552c2282332f15a
Autor:
Olga Lesnyak, Francesca Marini, Polina Sokolnikova, Margarita Sorokina, Kseniya Sukhareva, Irina Artamonova, Vladimir Kenis, Olga Tkach, Anna Kostareva, Maria Luisa Brandi
Publikováno v:
Bone Reports, Vol 21, Iss , Pp 101777- (2024)
We report a case of a patient with a de novo germline heterozygous truncating variant of CTNNB1 gene (c.2172del, p.Tyr724Ter) causing neurodevelopmental disorder with spastic diplegia and visual defects syndrome (NEDSDV) associated with a new clinica
Externí odkaz:
https://doaj.org/article/0d254560ddb448c189ae537ba88345dc
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundThe gamma-aminobutyric acid (GABA) variant causes developmental and epileptic encephalopathy 45 (DEE45), an autosomal dominant disorder that results in oculocortical visual impairment, reduced muscle tone, psychomotor retardation, and epile
Externí odkaz:
https://doaj.org/article/03e72a674361405b97b2bf638b077b55
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome (HADDTS) is an exceptionally rare disorder resulting from a heterozygous variant in the C-terminal binding protein 1 (CTBP1) gene. To date, a mere two variants (14 patients) hav
Externí odkaz:
https://doaj.org/article/f02ab189708f4ca2b7023a36f7544905