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Christina Evers, Lilian Kaufmann, Angelika Seitz, Nagarajan Paramasivam, Martin Granzow, Stephanie Karch, Christine Fischer, Katrin Hinderhofer, Georg Gdynia, Michael Elsässer, Stefan Pinkert, Matthias Schlesner, Claus R Bartram, Ute Moog
Intellectual disability (ID) with cerebellar ataxia comprises a genetically heterogeneous group of neurodevelopmental disorders. We identified a homozygous frameshift mutation in CWF19L1 (c.467delC; p.(P156Hfs*33)) by a combination of linkage analysis and Whole Exome Sequencing in a consanguineous Turkish family with a 9-year-old boy affected by early onset cerebellar ataxia and mild ID. Serial MRI showed mildly progressive cerebellar atrophy. Absent C19L1 protein expression in lymphoblastoid cell lines strongly suggested that c...
June 2016: American Journal of Medical Genetics. Part A
Minh Nguyen, Iris Boesten, Debby M E I Hellebrekers, Jo Vanoevelen, Rick Kamps, Bart de Koning, Irenaeus F M de Coo, Mike Gerards, Hubert J M Smeets
Autosomal recessive cerebellar ataxia (ARCA) is a group of neurological disorders characterized by degeneration or abnormal development of the cerebellum and spinal cord. ARCA is clinically and genetically highly heterogeneous, with over 20 genes involved. Exome sequencing of a girl with ARCA from non-consanguineous Dutch parents revealed two pathogenic variants c.37G>C; p.D13H and c.946A>T; p.K316* in CWF19L1, a gene with an unknown function, recently reported to cause ARCA in a Turkish family. Sanger sequencing showed that the c...
April 2016: European Journal of Human Genetics: EJHG
Randi Burns, Karen Majczenko, Jishu Xu, Weiping Peng, Zuhal Yapici, James J Dowling, Jun Z Li, Margit Burmeister
OBJECTIVE: To elucidate the genetic cause of a rare recessive ataxia presented by 2 siblings from a consanguineous Turkish family with a nonprogressive, congenital ataxia with mental retardation of unknown etiology. METHODS: Whole-exome sequencing was combined with homozygosity mapping, linkage, and expression analysis to identify candidate genes, confirmed by Sanger sequencing. Reverse transcription-PCR and immunoblotting were used to determine the functional consequences of the gene variant...
December 2, 2014: Neurology
Aya Kitamoto, Takuya Kitamoto, Takahiro Nakamura, Yuji Ogawa, Masato Yoneda, Hideyuki Hyogo, Hidenori Ochi, Seiho Mizusawa, Takato Ueno, Kazuwa Nakao, Akihiro Sekine, Kazuaki Chayama, Atsushi Nakajima, Kikuko Hotta
In several genome-wide association studies, nonalcoholic fatty liver disease and alanine aminotransferase susceptibility variants have been identified in several genes, including LYPLAL1, ZP4, GCKR, HSD17B13, PALLD, PPP1R3B, FDFT1, TRIB1, COL13A1, CPN1, ERLIN1, CWF19L1, EFCAB4B, PZP, and NCAN. To investigate the relationship between these genes and nonalcoholic fatty liver disease in the Japanese population, we genotyped 540 patients and 1012 control subjects for 18 variations. We performed logistic regression analyses to characterize the association between the tested variations and nonalcoholic fatty liver disease...
2014: Endocrine Journal
Mary F Feitosa, Mary K Wojczynski, Kari E North, Qunyuan Zhang, Michael A Province, Jeffrey J Carr, Ingrid B Borecki
OBJECTIVES: Nonalcoholic fatty liver disease (NAFLD) ranges from simple steatosis to hepatic inflammation to cirrhosis. We sought to identify common genetic variants contributing to NAFLD, using CT measured fatty liver (FL), and alanine aminotransferase levels (ALT), as a biochemical marker of hepatic inflammation. METHODS: We employed a correlated meta-analysis (CMA) to test whether combining FL and ALT genomewide association (GWA) results, using ∼2.5 million imputed SNPs, could enhance ability to detect variants influencing both traits...
May 2013: Atherosclerosis
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