Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma

Journal of Neurogenetics

Volumn 27, Issue 4, 2013, Pages 163-169

  Schwabova, Jaroslava ^a   Brozkova, Dana Safka ^a   Petrak, Borivoj ^a   Mojzisova, Mahulena ^b   Pavlickova, Klara ^a   Haberlova, Jana ^a   Mrazkova, Lenka ^a   Hedvicakova, Petra ^a   Hornofova, Ludmila ^a   Kaluzova, Marie ^a   Fencl, Filip ^a   Krutova, Marcela ^a   Zamecnik, Josef ^a   Seeman, Pavel ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b Horovice Hospital   (Czech Republic)

Author keywords

Olivopontocerebellar hypoplasia; Pontocerebellar hypoplasia type 1; Roma; Romanies (gypsies); Spinal muscular atrophies of childhood

Indexed keywords

BRAIN PROTEIN; DINUCLEOTIDE; EXOSC3 PROTEIN; MICROSATELLITE DNA; UNCLASSIFIED DRUG;

ANTERIOR HORN MOTOR NEURON DEGENERATION; APGAR SCORE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DEGENERATION; BRAIN ELECTROPHYSIOLOGY; CASE REPORT; CHILD; CZECH REPUBLIC; DEGENERATION; DNA FLANKING REGION; ETHNIC GROUP; ETHNICITY; FEMALE; GENE EXPRESSION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HEAD CIRCUMFERENCE; HEARING IMPAIRMENT; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INFANT; INTRON; MALE; MICROSATELLITE MARKER; NEUROPATHOLOGY; NEURORADIOLOGY; OBSERVATION; OLIVOPONTOCEREBELLAR ATROPHY; PARENT; PATIENT CODING; PERINATAL PERIOD; PHENOTYPE; PONTOCEREBELLAR HYPOPLASIA TYPE 1; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SPINAL CORD MOTONEURON; SPINAL CORD VENTRAL HORN; SPINAL MUSCULAR ATROPHY; WEAKNESS;

CZECH REPUBLIC; EXOSOME MULTIENZYME RIBONUCLEASE COMPLEX; FEMALE; GYPSIES; HAPLOTYPES; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; OLIVOPONTOCEREBELLAR ATROPHIES; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA-BINDING PROTEINS;

EID: 84889254442     PISSN: 01677063     EISSN: 15635260     Source Type: Journal    
DOI: 10.3109/01677063.2013.814651     Document Type: Article

References (17)

1. Barth, P. G. (1993). Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev, 15, 411-422.
2. Barth, P. G., Aronica, E., de Vries, L., Nikkels, P. G., Scheper, W., Hoozemans, J. J., et al. (2007). Pontocerebellar hypoplasia type 2: A neuropathological update. Acta Neuropathol, 114, 373-386.
3. Chou, S. M., Gilbert, E. F., Chun, R. W., Laxova, R., Tuffl I, G. A., Sufi T, R. L., et al. (1990). Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA-SMA). Clin Neuropathol, 9, 21-32.
4. Gilbert-Barness, E. (1997). Potter ' s pathology of the fetus and infant. St. Louis: Mosby-Year Book.
5. Goutieres, F., Aicardi, J., & Farkas, E. (1977). Anterior horn cell disease associated with pontocerebellar hypoplasia in infants. J Neurol Neurosurg Psychiatry, 40, 370-378.
6. Kizilates, S. U., Talim, B., Sel, K., Kose, G., & Caglar, M. (2005). Severe lethal spinal muscular atrophy variant with arthrogryposis. Pediatr Neurol, 32, 201-204.
7. Namavar, Y., Barth, P. G., Kasher, P. R., van Ruissen, F., Brockmann, K., Bernert, G., et al. (2011a). Clinical, neuroradiological and genetic fi ndings in pontocerebellar hypoplasia. Brain, 134 (Pt 1), 143-156.
8. Namavar, Y., Barth, P. G., Poll-The, B. T., & Baas, F. (2011b). Classifi cation, diagnosis and potential mechanisms in pontocerebellar hypoplasia. Orphanet J Rare Dis, 6, 50.
9. Navarro, C., & Teijeira, S. (2003). Neuromuscular disorders in the Gypsy ethnic group. A short review. Acta Myol, 22, 11-14.
10. Norman, R. M. (1961). Cerebellar hypoplasia in Werdnig-Hoffmann disease. Arch Dis Child, 36, 96-101.
11. Renbaum, P., Kellerman, E., Jaron, R., Geiger, D., Segel, R., Lee, M., et al. (2009). Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet, 85, 281-289.
12. Rudnik-Schoneborn, S., Senderek, J., Jen, J. C., Houge, G., Seeman, P., Puchmajerova, A., et al. (2013). Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations. Neurology, 80, 438-446.
13. Rudnik-Schoneborn, S., Sztriha, L., Aithala, G. R., Houge, G., Laegreid, L. M., Seeger, J., et al. (2003). Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet A, 117A, 10-17.
14. Rudnik-Schoneborn, S., Wirth, B., Rohrig, D., Saule, H., & Zerres, K. (1995). Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration. Neuromusc Disord, 5, 19-23.
15. Simonati, A., Cassandrini, D., Bazan, D., & Santorelli, F. M. (2011). TSEN54 mutation in a child with pontocerebellar hypoplasia type 1. Acta Neuropathol, 121, 671-673.
16. Szabo, N., Szabo, H., Hortobagyi, T., Turi, S., & Sztriha, L. (2008). Pontocerebellar hypoplasia type 1. Pediatr Neurol, 39, 286-288.
17. Wan, J., Yourshaw, M., Mamsa, H., Rudnik-Schoneborn, S., Menezes, M. P., Hong, J. E., et al. (2012). Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet, 44, 704-708.