Hydrolethalus syndrome: Neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis

Journal of Neuropathology and Experimental Neurology

Volumn 67, Issue 8, 2008, Pages 750-762

  Paetau, Anders ^a   Honkala, Heli ^b,c   Salonen, Riitta ^c,d   Ignatius, Jaakko ^c,e   Kestilä, Marjo ^b,c   Herva, Riitta ^f,g  

^a UNIVERSITY OF HELSINKI   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c Institute for Molecular Medicine ^*

^d NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^e Vaestoliitto   (Finland)

^f OULU UNIVERSITY HOSPITAL   (Finland)

^g UNIVERSITY OF OULU   (Finland)

Author keywords

Arhinencephaly; Callosal agenesis; Hydrocephalus; Hydrolethalus syndrome; Hypothalamic hamartoma; Midline patterning defects; Occipitoschisis

Indexed keywords

AGYRIA; ANENCEPHALUS; APLASIA; ARTICLE; BASAL GANGLION; BRAIN CORTEX; BRAIN STEM; BRAIN WEIGHT; CEREBELLUM; CEREBROSPINAL FLUID; CLINICAL ARTICLE; EXON; FEMALE; FETUS; GENE; HAMARTOMA; HEMISPHERE; HETEROTOPIA; HIPPOCAMPUS; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDRAENCEPHALY; HYDROCEPHALUS; HYDROLETHALUS SYNDROME; HYLS1 GENE; HYPOPLASIA; LEPTOMENINX; MALE; MALFORMATION SYNDROME; MICROGYRIA; MICROSCOPY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROPATHOLOGY; NEWBORN; OCCIPITAL LOBE; OLFACTORY SYSTEM; PERIVENTRICULAR HETEROTOPIA; PRIORITY JOURNAL; SKULL BASE; SKULL DEFECT; TEMPORAL LOBE; THALAMUS; AUTOPSY; CENTRAL NERVOUS SYSTEM; GENE LINKAGE DISEQUILIBRIUM; GENETICS; GESTATIONAL AGE; METABOLISM; METHODOLOGY; MULTIPLE MALFORMATION SYNDROME; MUTATION; PATHOLOGY; PRENATAL DEVELOPMENT;

GLIAL FIBRILLARY ACIDIC PROTEIN; HYLS1 PROTEIN, HUMAN; MAP2 PROTEIN, HUMAN; MICROTUBULE ASSOCIATED PROTEIN; PROTEIN;

ABNORMALITIES, MULTIPLE; AUTOPSY; CENTRAL NERVOUS SYSTEM; FETUS; GESTATIONAL AGE; GLIAL FIBRILLARY ACIDIC PROTEIN; HUMANS; LINKAGE DISEQUILIBRIUM; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; PROTEINS;

EID: 52249087335     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1097/NEN.0b013e318180ec2e     Document Type: Article

References (40)

1. Salonen R, Herva R, Norio R. The hydrolethalus syndrome: Delineation of a Bnew[, lethal malformation syndrome based on 28 patients. Clin Genet 1981;19:321-30
2. Hartikainen-Sorri AL, Kirkinen P, Herva R. Prenatal detection of hydrolethalus syndrome. Prenat Diagn 1983;3:219-24
3. Ammala P, Salonen R. First-trimester diagnosis of hydrolethalus syndrome. Ultrasound Obstet Gynecol 1995;5:60-62
4. Mee L, Honkala H, Kopra O, et al. Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. Hum Mol Genet 2005;14: 1475-88
5. Salonen R, Herva R. Hydrolethalus syndrome. J Med Genet 1990;27: 756-59
6. Finke J, Fritzen R, Ternes P, et al. An improved strategy and a useful housekeeping gene for RNA analysis from formalin-fixed, paraffin-embedded tissues by PCR. Biotechniques 1993;14:448-53
7. Kivela T, Salonen R, Paetau A. Hydrolethalus: A midline malformation syndrome with optic nerve coloboma and hypoplasia. Acta Neuropathol (Berl) 1996;91:511-18
8. Opitz JM, Gilbert EF. CNS anomalies and the midline as a Bdevelopmental field[. Am J Med Genet 1982;12:443-55
9. Ming JE, Golden JA. Midline patterning defects. In: Golden JA, Harding BN, eds. Developmental Neuropathology. Basel, Switzerland: International Society for Neuropathology (ISN) Neuropath Press, 2004:14-25
10. Norman MG, McGillivray BC, Kalousek DK, et al. Congenital Malformations of the Brain. Pathologic, Embryologic, Clinical, Radiologic and Genetic Aspects. New York, NY: Oxford University Press, 1995
11. Golden JA. Lissencephaly type 1. In: Golden JA, Harding BN, eds. Developmental Neuropathology. Basel, Switzerland: International Society for Neuropathology (ISN) Neuropath Press, 2004:34-41
12. Golden JA. Lissencephaly type 2 (cobblestone). In: Golden JA, Harding BN, eds. Developmental Neuropathology. Basel, Switzerland: International Society for Neuropathology (ISN) Neuropath Press, 2004:42-48
13. Paetau A, Salonen R, Haltia M. Brain pathology in the Meckel syndrome: A study of 59 cases. Clin Neuropathol 1985;4:56-62
14. Eriksson SH, Thom M, Heffernan J, et al. Persistent reelin-expressing Cajal-Retzius cells in polymicrogyria. Brain 2001;124:1350-61
15. Kang S, Graham JM Jr, Olney AH, et al. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 1997;15: 266-68 (Pubitemid 27098719)
16. Johnston JJ, Olivos-Glander I, Killoran C, et al. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 2005;76:609-22
17. Kang S, Allen J, Graham JM Jr, et al. Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. J Med Genet 1997;34:441-46 (Pubitemid 27268119)
18. Wallace RH, Freeman JL, Shouri MR, et al. Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures. Neurology 2008;70:653-55
19. Pleasure SJ, Guerrini R. Hypothalamic hamartomas and hedgehogs: Not a laughing matter. Neurology 2008;70:588-89
20. Biesecker LG, Graham JM Jr. Pallister-Hall syndrome. J Med Genet 1996;33:585-89
21. Hall JG, Pallister PD, Clarren SK, et al. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly-a new syndrome? Part I: Clinical, causal, and pathogenetic considerations. Am J Med Genet 1980;7:47-74
22. Clarren SK, Alvord EC Jr, Hall JG. Congenital hypothalamic hamarto-blastoma, hypopituitarism, imperforate anus, and postaxial polydactyly-a new syndrome? Part II: Neuropathological considerations. Am J Med Genet 1980;7:75-83
23. Coons SW, Rekate HL, Prenger EC, et al. The histopathology of hypothalamic hamartomas: Study of 57 cases. J Neuropathol Exp Neurol 2007;66:131-41
24. Louis DN, Ohgaki H, Wiestler OD, et al. WHO Classification of Tumours of the Central Nervous System. Lyon, France: International Agency for Research on Cancer; 2007
25. Christensen B, Blaas HG, Isaksen CV, et al. Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: Hydrolethalus or acrocallosal syndrome? Am J Med Genet 2000;91:231-34
26. Courtens W, Vamos E, Christophe C, et al. Acrocallosal syndrome in an Algerian boy born to consanguineous parents: Review of the literature and further delineation of the syndrome. Am J Med Genet 1997;69: 17-22
27. Koenig R, Bach A, Woelki U, et al. Spectrum of the acrocallosal syndrome. Am J Med Genet 2002;108:7-11
28. Nelson MM, Thomson AJ. The acrocallosal syndrome. Am J Med Genet 1982;12:195-99
29. Elson E, Perveen R, Donnai D, et al. De novo GLI3 mutation in acrocallosal syndrome: Broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet 2002;39:804-6
30. Castori M, Douzgou S, Silvestri E, et al. Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association. Am J Med Genet A 2007;143:277-84
31. Toriello HV, Carey JC, Suslak E, et al. Six patients with oral-facial-digital syndrome IV: The case for heterogeneity. Am J Med Genet 1997;69:250-60
32. Ades LC, Clapton WK, Morphett A, et al. Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: A new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV? Am J Med Genet 1994;49:211-17
33. Herva R, Seppanen U. Roentgenologic findings of the hydrolethalus syndrome. Pediatr Radiol 1984;14:41-43
34. Doss BJ, Jolly S, Qureshi F, et al. Neuropathologic findings in a case of OFDS type VI (Varadi syndrome). Am J Med Genet 1998;77:38-42
35. Muenke M, Ruchelli ED, Rorke LB, et al. On lumping and splitting: A fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome. Am J Med Genet 1991;41:548-56
36. Verloes A, Gillerot Y, Langhendries JP, et al. Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: Review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome. Am J Med Genet 1992;43: 669-77
37. Poluch S, Juliano SL. A normal radial glial scaffold is necessary for migration of interneurons during neocortical development. Glia 2007;55: 822-30
38. Li Z, Wang C, Prendergast GC, et al. Cyclin D1 functions in cell migration. Cell Cycle 2006;5:2440-42
39. Tashiro E, Tsuchiya A, Imoto M. Functions of cyclin D1 as an oncogene and regulation of cyclin D1 expression. Cancer Sci 2007;98:629-35
40. Villavicencio EH, Walterhouse DO, Iannaccone PM. The sonic hedgehog-patched-gli pathway in human development and disease. Am J Hum Genet 2000;67:1047-54