Novel Mutations Detected in the TSC2 Hene From Both Sporadic and Familial TSC Patients
نویسندگان
چکیده
منابع مشابه
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.
Autosomal recessive steroid-resistant nephrotic syndrome (SRINS) belongs to the heterogeneous group of familial nephrotic syndrome and represents a frequent cause of end-stage renal disease in childhood. This kidney disorder is characterized by early onset of proteinuria, progression to end-stage renal disease, and histologic findings of focal segmental glomerulosclerosis, minimal change nephro...
متن کاملMosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing
Tuberous sclerosis complex (TSC) is an autosomal dominant tumor suppressor gene syndrome due to germline mutations in either TSC1 or TSC2. 10-15% of TSC individuals have no mutation identified (NMI) after thorough conventional molecular diagnostic assessment. 53 TSC subjects who were NMI were studied using next generation sequencing to search for mutations in these genes. Blood/saliva DNA inclu...
متن کاملmolecular pathology of 6 novel gjb2 allelic variants detected in familial and sporadic iranian non syndromic hearing loss cases
background: mutations of gjb2 gene encoding connexion 26 are the most common cause of hearing loss in many populations. a very wide spectrum of gjb2 gene mutations associated with hearing loss have been detected but pathogenic role has been tested only for a part of them. in this study, we have provided genetic evidence on the pathogenicity of our previously reported novel gjb2 allelic varian...
متن کاملTDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterized pathologically by ubiquitinated TAR DNA binding protein (TDP-43) inclusions. The function of TDP-43 in the nervous system is uncertain, and a mechanistic role in neurodegeneration remains speculative. We identified neighboring mutations in a highly conserved region of TARDBP in sporadic and familial ALS cases. TA...
متن کاملFOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst
Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater. Most cases are sporadic; however, three familial SEDAC cases have been reported, suggesting genetic etiological factors. All familial cases are associated with lymphedema-distichiasis syndrome (LDS), whose causal gene is FOXC2. However, FOXC2 mutation an...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1996
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/5.2.249