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Full-Text Articles in Chemistry
Homozygous Mutation In Samhd1 Gene Causes Cerebral Vasculopathy And Early Onset Stroke, Baozhong Xin, Stephen Jones, Erik G. Puffenberger, Claas Hinze, Alicia Bright, Haiyan Tan, Aimin Zhou, Guiyun Wu, Jilda Vargus Adams, Dimitris Agamanolis, Heng Wang
Homozygous Mutation In Samhd1 Gene Causes Cerebral Vasculopathy And Early Onset Stroke, Baozhong Xin, Stephen Jones, Erik G. Puffenberger, Claas Hinze, Alicia Bright, Haiyan Tan, Aimin Zhou, Guiyun Wu, Jilda Vargus Adams, Dimitris Agamanolis, Heng Wang
Chemistry Faculty Publications
We describe an autosomal recessive condition characterized with cerebral vasculopathy and early onset of stroke in 14 individuals in Old Order Amish. The phenotype of the condition was highly heterogeneous, ranging from severe developmental disability to normal schooling. Cerebral vasculopathy was a major hallmark of the condition with a common theme of multifocal stenoses and aneurysms in large arteries, accompanied by chronic ischemic changes, moyamoya morphology, and evidence of prior acute infarction and hemorrhage. Early signs of the disease included mild intrauterine growth restriction, infantile hypotonia, and irritability, followed by failure to thrive and short stature. Acrocyanosis, Raynaud’s phenomenon, chilblain …
Homozygous Frameshift Mutation In Tmco1 Causes A Syndrome With Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation, Baozhong Xin, Erik G. Puffenberger, Susan Turben, Haiyan Tan, Aimin Zhou, Heng Wang
Homozygous Frameshift Mutation In Tmco1 Causes A Syndrome With Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation, Baozhong Xin, Erik G. Puffenberger, Susan Turben, Haiyan Tan, Aimin Zhou, Heng Wang
Chemistry Faculty Publications
We identified an autosomal recessive condition in 11 individuals in the Old Order Amish of northeastern Ohio. The syndrome was characterized by distinctive craniofacial dysmorphism, skeletal anomalies, and mental retardation. The typical craniofacial dysmorphism included brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represented skeletal anomalies. The genome-wide homozygosity mapping using six affected individuals localized the disease gene to a 3.3-Mb region on chromosome 1q23.3-q24.1. Candidate gene sequencing identified a homozygous frameshift mutation, c.139_140delAG, in …