Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination

Brain and Development

Volumn 36, Issue 4, 2014, Pages 315-321

  Shimojima, Keiko ^a   Shimada, Shino ^a   Tamasaki, Akiko ^b   Akaboshi, Shinjiro ^c   Komoike, Yuta ^a   Saito, Akira ^d   Furukawa, Toru ^a   Yamamoto, Toshiyuki ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b TOTTORI UNIVERSITY   (Japan)

^c National Tottori Medical Center   (Japan)

^d Kuramae Orashion Bldg 9F   (Japan)

Author keywords

Hypomyelination; Hypomyelination with hypodontia and hypogonadotropic hypogonadism (4H) syndrome; Leukodystrophy; POLR3A; RNA polymerase III (Pol III); Whole exome sequencing

Indexed keywords

ADULT; ARTICLE; BRAIN STEM; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; CEREBELLUM; DNA DIRECTED RNA POLYMERASE III SUBUNIT A GENE; ELECTROPHORESIS; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPODONTIA; HYPOGONADISM; HYPOMYELINATING DISORDER; MYELINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; SKIN FIBROBLAST; WHITE MATTER; BRAIN; CELL CULTURE; DEMYELINATING DISEASE; EXOME; FIBROBLAST; GENETICS; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROCEDURES; SKIN;

7SL RNA; DNA DIRECTED RNA POLYMERASE III; POLYMERASE III POLYPEPTIDE A, HUMAN; SIGNAL RECOGNITION PARTICLE; SMALL CYTOPLASMIC RNA;

ADULT; BRAIN; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; FIBROBLASTS; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION; RNA POLYMERASE III; RNA, SMALL CYTOPLASMIC; SIGNAL RECOGNITION PARTICLE; SKIN;

EID: 84896110980     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2013.04.011     Document Type: Article

References (25)

1. Steenweg M.E., Vanderver A., Blaser S., Bizzi A., de Koning T.J., Mancini G.M., et al. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain 2010, 133:2971-2982.
2. Schiffmann R., van der Knaap M.S. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 2009, 72:750-759.
3. Inoue K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 2005, 6:1-16.
4. Yamamoto T., Shimojima K. Pelizaeus-Merzbacher disease as a chromosomal disorder. Congenit Anom (Kyoto) 2013, 53:3-8.
5. Shimojima K., Inoue T., Imai Y., Arai Y., Komoike Y., Sugawara M., et al. Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication. J Hum Genet 2012, 57:580-586.
6. Henneke M., Combes P., Diekmann S., Bertini E., Brockmann K., Burlina A.P., et al. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Neurology 2008, 70:748-754.
7. Vaurs-Barriere C., Deville M., Sarret C., Giraud G., Des Portes V., Prats-Vinas J.M., et al. Pelizaeus-Merzbacher-like disease presentation of MCT8 mutated male subjects. Ann Neurol 2009, 65:114-118.
8. Orcesi S., Tonduti D., Uggetti C., Larizza D., Fazzi E., Balottin U. New case of 4H syndrome and a review of the literature. Pediatr Neurol 2010, 42:359-364.
9. Saitsu H., Osaka H., Sasaki M., Takanashi J., Hamada K., Yamashita A., 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.
10. Bernard G., Chouery E., Putorti M.L., Tetreault M., Takanohashi A., Carosso G., et al. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet 2011, 89:415-423.
11. Tetreault M., Choquet K., Orcesi S., Tonduti D., Balottin U., Teichmann M., et al. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet 2011, 89:652-655.
12. McKenna A., Hanna M., Banks E., Sivachenko A., Cibulskis K., Kernytsky A., et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010, 20:1297-1303.
13. DePristo M.A., Banks E., Poplin R., Garimella K.V., Maguire J.R., Hartl C., et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2011, 43:491-498.
14. Wang K., Li M., Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010, 38:e164.
15. Adzhubei I.A., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., et al. A method and server for predicting damaging missense mutations. Nat Methods 2010, 7:248-249.
16. Kumar P., Henikoff S., Ng P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009, 4:1073-1081.
17. Shimojima K., Inoue T., Hoshino A., Kakiuchi S., Watanabe Y., Sasaki M., et al. Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications. Brain Dev 2010, 32:171-179.
18. Yee N.S., Gong W., Huang Y., Lorent K., Dolan A.C., Maraia R.J., et al. Mutation of RNA Pol III subunit rpc2/polr3b leads to deficiency of subunit Rpc11 and disrupts zebrafish digestive development. PLoS Biol 2007, 5:e312.
19. Timmons M., Tsokos M., Asab M.A., Seminara S.B., Zirzow G.C., Kaneski C.R., et al. Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. Neurology 2006, 67:2066-2069.
20. Bernard G., Thiffault I., Tetreault M., Putorti M.L., Bouchard I., Sylvain M., et al. Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics 2010, 11:457-464.
21. Atrouni S., Daraze A., Tamraz J., Cassia A., Caillaud C., Megarbane A. Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity?. Am J Med Genet A 2003, 118A:76-81.
22. Chouery E., Delague V., Jalkh N., Salem N., Kfoury J., Rodriguez D., et al. A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22. Neurogenetics 2011, 12:73-78.
23. Sasaki M., Takanashi J., Tada H., Sakuma H., Furushima W., Sato N. Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. Brain Dev 2009, 31:582-587.
24. Potic A., Brais B., Choquet K., Schiffmann R., Bernard G. 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. Arch Neurol 2012, 69:920-923.
25. Dumay-Odelot H., Durrieu-Gaillard S., Da Silva D., Roeder R.G., Teichmann M. Cell growth- and differentiation-dependent regulation of RNA polymerase III transcription. Cell Cycle 2010, 9:3687-3699.