Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): Is prenatal diagnosis possible?

American Journal of Medical Genetics, Part A

Volumn 152, Issue 9, 2010, Pages 2268-2276

  Graham Jr , John M ^a   Spencer, Andrew H ^a   Grinberg, Inessa ^a   Niesen, Charles E ^a   Platt, Lawrence D ^a   Maya, Marcel ^a   Namavar, Yasmin ^b   Baas, Frank ^b   Dobyns, William B ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

Autosomal recessive; Cerebellar hypoplasia; Dyskinesia; Microcephaly; Neurogenetics; Neuroimaging; Prenatal diagnosis; tRNA splicing endonuclease; TSEN54 mutation

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLUM HYPOPLASIA; DIFFUSION TENSOR IMAGING; DIZYGOTIC TWINS; DYSKINESIA; FEEDING DISORDER; FERTILIZATION IN VITRO; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; INFANT; MICROCEPHALY; NEUROIMAGING; PONTOCEREBELLAR HYPOPLASIA TYPE 2; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESPIRATORY DISTRESS SYNDROME; SEQUENCE ANALYSIS; TSEN54 GENE;

ADULT; CEREBELLUM; ENDORIBONUCLEASES; FEMALE; FOUNDER EFFECT; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; OLIVOPONTOCEREBELLAR ATROPHIES; PREGNANCY; PRENATAL DIAGNOSIS; TWINS, DIZYGOTIC;

EID: 77956123967     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33579     Document Type: Article

References (27)

1. Ajibola AJ, Netzloff M, Samaraweera R, Omar SA. 2010. Two cases of pontocerebellar hypoplasia: Ethical and prenatal diagnostic dilemma. Am J Perinatol 27:181-187.
2. Barth PG. 1993. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 15: 411-422.
3. Barth PG, Blennow G, Lenard HG, Begeer JH, van der Kley JM, Hanefeld F, Peters AC, Valk J. 1995. The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): Compiled data from 10 pedigrees. Neurology 45:311-317.
4. Barth PG, Aronica E, de Vries L, Nikkels PGJ, Scheper W, Hoozemans JJ, Poll-The BT, Troost D. 2007. Pontocerebellar hypoplasia type 2: A neuropathological update. Acta Neuropathol 114:373-386.
5. Boltshauser E. 2004. Cerebellum-small brain but large confusion: A review of selected cerebellar malformations and disruptions. Am J Med Genet Part A 126A:376-385. (Pubitemid 38541805)
6. Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. 2008. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet 40: 1113-1118.
7. Chaves-Vischer V, Pizzolato GP, Hanquinet S, Maret A, Bottani A, Haenggeli CA. 2000. Early fatal pontocerebellar hypoplasia in premature twin sisters. Eur J Paediatr Neurol 4:171-176.
8. Chavez MR, Ananth CV, Smulian JC, Lashley S, Kontopoulos EV, Vintzileos AM. 2003. Fetal transcerebellar diameter nomogram in singleton gestations with special emphasis in the third trimester: A comparison with previously published nomograms. Am J Obstet Gynecol 189: 1021-1025.
9. Coppola G, Muras I, Pascotto A. 2000. Pontocerebellar hypoplasia type 2 (PCH2): Report of two siblings. Brain Dev 22:188-192.
10. Durmaz B, Wollnik B, Cogulu O, Li Y, Tekgul H, Hazan F, Ozkinay F. 2009. Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings. J Neurol 256:416-419.
11. Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada A, Elpeleg O. 2007. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet 81:857-862.
12. Goasdoue P, Rodriquez D, Moutard M-L, Robain O, Lalande G, Adamsbaum C. 2001. Pontocerebellar hypoplasia; definition of MR features. Pediatr Radiol 31:613-618.
13. Hevner RF. 2007. Progress on pontocerebellar hypoplasia. Acta Neuropathol 114:401-402.
14. Kalpana D, Parvathy L, Ahamed SM, Iype M, Kunju MP. 2009. A mild variant of pontocerebellar hypoplasia type 1 in a 12-year-old Indian boy. Pediatr Neurol 40:302-305.
15. Kapur RP, Mahoney BS, Finch L, Siebert JR. 2009. Normal and abnormal anatomy of the cerebellar vermis in midgestational human fetuses. Birth Defects Res (Part A) 85:700-709.
16. Kasprian G. 2008. In utero tractography of fetal white matter development. Neuroimage 43:213-224.
17. Korsten A, Lequin M, Govaert P. 2006. Sonographic maturation of third-trimester cerebellar foliation after birth. Pediatr Res 59:695-699. (Pubitemid 43740013)
18. Leroy JG, Lyon G, Fallet C, Amiel J, De Praeter C, Van Den Broecke C, Vanhaesebrouck P. 2007. Congenital pontocerebellar atrophy and telencephalic defects in three siblings: A new subtype. Acta Neuropathol 114:387-399.
19. Messerschmidt A, Prayer D, Brugger PC, Boltshauser E, Zoder G, Sterniste W, Pollak A, Weber M, Birnbacher R. 2008. Preterm birth and disruptive cerebellar development: Assessment of perinatal risk factors. Eur J Paediatr Neurol 12:455-460.
20. Patel MS, Becker LE, Toi A, Armstrong DL, Chitayat D. 2006. Severe, fetalonset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? Am J Med Genet Part A 140A:594-603.
21. Rajab A, Mochida GH, Hill A, Ganesh V, Bodell A, Riaz A, Grant PE, Shugart YY, Walsh CA. 2003. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Neurology 60:1664-1667.
22. Rankin J, Brown R, Dobyns W, Harington J, Patel J, Quinn M, Brown G. 2010. Pontocerebellar hypoplasia type 6: A British case with no respiratory chain defects in muscle. Am J Med Genet Part A 152A:2079-2084.
23. Renbaum P, Kellerman E, Jaron R, Geiger D, Segel R, Lee M, King MC, Levy-Lahad E. 2009. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet 85: 281-289.
24. Smith PA. 1986 Prenatal measurement of the fetal cerebellum and cisterna cerebellomedullaris by ultrasound. Prenat Diagn 6:133-141.
25. Snijders RJM, DeCourcy-Wheeler RHB, Nicolaides KH. 1994. Intrauterine growth retardation and fetal transvers cerebellar diameter. Prenat Diagn 14:1101-1105.
26. Steinlin M, Klein A, Haas-Lude K, Zafeiriou D, Strozzi S, Müller T, Gubser-Mercati D, Schmitt Mechelke T, Krägeloh-Mann I, Boltshauser E. 2007. Pontocerebellar hypoplasia type 2: Variability in clinical and imaging findings. Eur J Paediatr Neurol 11:146-152.
27. Zelnik N, Dobyns WB, Forem SL, Kolodny EH. 1996. Congenital pontocerebellar atrophy in three patients: Clinical, radiologic and etiologic considerations. Neuroradiology 38:684-687. (Pubitemid 26343675)