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Nmezi B, Giorgio E, Raininko R, et al. Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy. Neurol Genet. 2019;5(1):e305doi: 10.1212/NXG.0000000000000305.
Nmezi, B., Giorgio, E., Raininko, R., Lehman, A., Spielmann, M., Koenig, M. K., Adejumo, R., Knight, M., Gavrilova, R., Alturkustani, M., Sharma, M., Hammond, R., Gahl, W. A., Toro, C., Brusco, A., & Padiath, Q. S. (2019). Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy. Neurology. Genetics, 5(1), e305. https://doi.org/10.1212/NXG.0000000000000305
Nmezi, Bruce, et al. "Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy." Neurology. Genetics vol. 5,1 (2019): e305. doi: https://doi.org/10.1212/NXG.0000000000000305
Nmezi B, Giorgio E, Raininko R, Lehman A, Spielmann M, Koenig MK, Adejumo R, Knight M, Gavrilova R, Alturkustani M, Sharma M, Hammond R, Gahl WA, Toro C, Brusco A, Padiath QS. Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy. Neurol Genet. 2019 Jan 24;5(1):e305. doi: 10.1212/NXG.0000000000000305. eCollection 2019 Feb. PMID: 30842973; PMCID: PMC6384018.
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Neurol Genet. 2019 Jan 24;5(1):e305. doi: 10.1212/NXG.0000000000000305. eCollection 2019 Feb.

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.

Neurology. Genetics

Bruce Nmezi, Elisa Giorgio, Raili Raininko, Anna Lehman, Malte Spielmann, Mary Kay Koenig, Rahmat Adejumo, Melissa Knight, Ralitza Gavrilova, Murad Alturkustani, Manas Sharma, Robert Hammond, William A Gahl, Camilo Toro, Alfredo Brusco, Quasar S Padiath

Affiliations

  1. Department of Human Genetics (B.N., Q.S.P.), Graduate School of Public Health, University of Pittsburgh; Department of Medical Sciences (E.G., A.B.), University of Torino, Italy; Department of Radiology (R.R.), Uppsala University, Sweden; Department of Medical Genetics (A.L.), British Columbia Children's Hospital, Vancouver, Canada; Department of Genome Sciences (M. Spielmann), University of Washington, Seattle; Department of Pediatrics (M.K.K., R.A., M.K.), McGovern Medical School, University of Texas, Houston; Departments of Clinical Genomics and Neurology (R.G.), Mayo Clinic, Rochester, MN; Department of Pathology (M.A.), King Abdulaziz University, Jeddah, Saudi Arabia; Department of Medical Imaging (M. Sharma), Western University, London, Canada; Departments of Pathology and Clinical Neurological Sciences (R.H.), Western University and London Health Sciences Centre, Canada; Office of the Clinical Director (W.A.G., C.T.), NHGRI; and NIH Undiagnosed Diseases Program (W.A.G., C.T.), Office of the Director, NIH, Bethesda, MD.

PMID: 30842973 PMCID: PMC6384018 DOI: 10.1212/NXG.0000000000000305

Abstract

OBJECTIVE: Clinical, radiologic, and molecular analysis of patients with genomic deletions upstream of the

METHODS: Detailed neurologic, MRI examinations, custom array comparative genomic hybridization (aCGH) analysis, and expression analysis were performed in patients at different clinical centers. All procedures were approved by institutional review boards of the respective institutions.

RESULTS: Five patients from 3 independent families presented at ages ranging from 32 to 52 years with neurologic symptoms that included progressive hypophonia, upper and lower limb weakness and spasticity, and cerebellar dysfunction and MRIs characterized by widespread white matter alterations. Patients had unique nonrecurrent deletions upstream of the

CONCLUSIONS: Our findings confirmed the association between

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