A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A

Clinical Neurology

Volumn 53, Issue 8, 2013, Pages 624-629

  Tamura, Asako ^a   Niwa, Atsushi ^a   Ii, Yuichiro ^a   Sasaki, Ryogen ^a   Tomimoto, Hidekazu ^a   Saitsu, Hirotomo ^b  

^a MIE UNIVERSITY   (Japan)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

Author keywords

Ataxia; Hypogonadotropic hypogonadism; Hypomyelination; PolIII related leukodystrophy; POLR3A gene

Indexed keywords

DNA DIRECTED RNA POLYMERASE III; FOLLITROPIN; LUTEINIZING HORMONE; TESTOSTERONE;

ADULT; ARTICLE; ATAXIA; CASE REPORT; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPODONTIA; HYPOGONADOTROPIC HYPOGONADISM; HYPOMYELINATING LEUKODYSTROPHY; LEUKODYSTROPHY; MALE; MISSENSE MUTATION; MYOPIA; NUCLEAR MAGNETIC RESONANCE IMAGING; POLR3A GENE;

ADULT; HUMANS; MALE; MUTATION; PELIZAEUS-MERZBACHER DISEASE; RNA POLYMERASE III;

EID: 84882962389     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: 10.5692/clinicalneurol.53.624     Document Type: Article

References (16)

1. Bernard G, Vanderver A. PolIII-related leukodystrophies. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2012 Aug 02. Available from: http://www.ncbi.nlm.nih.gov/ books/NBK99167/.
2. Holmes G. A form of familial degeneration of the cerebellum. Brain 1908;30:466-489.
3. Atrouni S, Daraz6 A, Tamraz J, et al. Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity? Am J Med Genet A 2003;118A:76-81.
4. Wolf NI, Harting I, Boltshauser E, et al. Leukoencephalopathy with ataxia, hypodontia, and hypomyelination. Neurology 2005; 64:1461-1464.
5. Wolf NI, Harting I, Innes AM, et al. Ataxia, delayed dentition and hypomyelination: a novel Leukoencephalopathy. Neuro-pediatrics 2007;38:64-70.
6. Timmons M, Tsokos M, Asab MA, et al. Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. Neurology 2006;67:2066-2069.
7. Sasaki M, Takanashi J, Tada H, et al. Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. Brain Dev 2009;31:582-587.
8. Bernard G, Thiffault I, Tetreault M, et al. Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics 2010;11:457-464.
9. Dieci G, Fiorino G, Castelnuovo M, et al. The expanding RNA polymerase III transcriptome. Trends Genet 2007;23:614-622.
10. Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 2009;72:750-759.
11. Bernard G, Chouery E, Putorti ML, et al. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Poim cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet 2011;89:415-423.
12. Saitsu H, Osaka H, Sasaki M, et al. Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet 2011;89:644-651.
13. T6treault M, Choquet K, Orcesi S, et al. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III
14. Potic A, Bernard B, Choquet K, et al. 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. Arch Neurol 2012;69:920-923.
15. Terao Y, Saitsu H, Segawa M, et al. Diffuse central hypo-myelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase m. J Neurol Sei 2012;320:102-105.
16. Dinwiddie DL, Miller NA, Saunders CJ, et al. Exome sequencing reveals cause of hypomyelinating leukodystrophy. J Genomes Exomes 2012;1:7-14.