Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort

American Journal of Medical Genetics, Part A

Volumn 152, Issue 11, 2010, Pages 2736-2742

  Mellado, Cecilia ^a,b   Poduri, Annapurna ^a   Gleason, Danielle ^a   Elhosary, Princess C ^a   Barry, Brenda J ^a   Partlow, Jennifer N ^a   Chang, Bernard S ^c   Shaw, Gary M ^d   Barkovich, A James ^e   Walsh, Christopher A ^a,c,f  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^c HARVARD MEDICAL SCHOOL   (United States)

^d STANFORD UNIVERSITY   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

HESX1; LHX1; Schizencephaly; Septo optic dysplasia; SOX2

Indexed keywords

PROTEIN LHX2; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR HESX1; TRANSCRIPTION FACTOR SOX2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE SEQUENCE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHIZENCEPHALY; SCHOOL CHILD; SEPTOOPTIC DYSPLASIA; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; BASE SEQUENCE; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; SEPTO-OPTIC DYSPLASIA; SEQUENCE ANALYSIS, DNA; SOXB1 TRANSCRIPTION FACTORS; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 78049265482     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33684     Document Type: Article

References (35)

1. Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK. 2007. SOX2 anophthalmia syndrome: 12 New cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol 91: 1471-1476.
2. Barkovich AJ, Norman D. 1988. MR imaging of schizencephaly. AJR Am J Roentgenol 150: 1391-1396.
3. Barkovich AJ, Fram EK, Norman D. 1989. Septo-optic dysplasia: MR imaging. Radiology 171: 189-192.
4. Barkovich AJ, Kjos BO. 1992. Schizencephaly: Correlation of clinical findings with MR characteristics. AJNR Am J Neuroradiol 13: 85-94.
5. Barkovich AJ. 2005. Pediatric neuroimaging, Fourth edition. Philadelphia, PA: Lippincott Williams & Wilkins. pp 334-337.
6. Benner JD, Preslan MW, Gratz E, Joslyn J, Schwartz M, Kelman S. 1990. Septo-optic dysplasia in two siblings. Am J Ophthalmol 109: 632-637.
7. Brickman JM, Clements M, Tyrell R, McNay D, Woods K, Warner J, Stewart A, Beddington RS, Dattani M. 2001. Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders. Development 128: 5189-5199.
8. Bubis JJ, Landau WM. 1964. Agenesis of pyramidal tracts associated with schizencephalic clefts in rolandic cortex. Neurology 14: 821-824.
9. Capra V, De Marco P, Moroni A, Faiella A, Brunelli S, Tortori-Donati P, Andreussi I, Boncinelli E, Cama A. 1996. Schizencephaly: Surgical features and new molecular genetic results. Eur J Pediatr Surg 6: 27-29.
10. Curry CJ, Lammer EJ, Nelson V, Shaw GM. 2005. Schizencephaly: Heterogeneous etiologies in a population of 4 million California births. Am J Med Genet Part A 137A: 181-189.
11. Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Mårtensson IL, Toresson H, Fox M, Wales JK, Hindmarsh PC, Krauss S, Beddington RS, Robinson IC. 1998. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet 19: 125-133.
12. Faiella A, Brunelli S, Granata T, D'Incerti L, Cardini R, Lenti C, Battaglia G, Boncinelli E. 1997. A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2. Eur J Hum Genet 5: 186-190.
13. Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR. 2003. Mutations in SOX2 cause anophthalmia. Nat Genet 33: 461-463.
14. Granata T, Battaglia G, D'Incerti L, Franceschetti S, Spreafico R, Battino D, Savoiardo M, Avanzini G. 1996. Schizencephaly: Neuroradiologic and epileptologic findings. Epilepsia 37: 1185-1193.
15. Granata T, Farina L, Faiella A, Cardini R, D'Incerti L, Boncinelli E, Battaglia G. 1997. Familial schizencephaly associated with EMX2 mutation. Neurology 48: 1403-1406.
16. Hayashi N, Tsutsumi Y, Barkovich AJ. 2002. Morphological features and associated anomalies of schizencephaly in the clinical population: Detailed analysis of MR images. Neuroradiology 44: 418-427.
17. Hebert JM, Fishell G. 2008. The genetics of early telencephalon patterning: Some assembly required. Nat Rev Neurosci 9: 678-685.
18. Hehr U, Pineda-Alvarez DE, Hehr A, Schell-Apacik C, Altus C, Daumer-Haas C, Meiner A, Steuernagel P, Roessler E, Winkler J, Muenke M. 2010. Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. Hum Genet 127: 555-561.
19. Hilburger AC, Willis JK, Bouldin E, Henderson-Tilton A. 1993. Familial schizencephaly. Brain Dev 15: 234-236.
20. Hosley MA, Abroms IF, Ragland RL. 1992. Schizencephaly: Case report of familial incidence. Pediatr Neurol 8: 148-150.
21. Kelberman D, Rizzoti K, Avilion A, Bitner-Glindzicz M, Cianfarani S, Collins J, Chong WK, Kirk JM, Achermann JC, Ross R, Carmignac D, Lovell-Badge R, Robinson IC, Dattani MT. 2006. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest 116: 2442-2455.
22. Kelberman D, Dattani MT. 2007. Genetics of septo-optic dysplasia. Pituitary 10: 393-407.
23. Komarniski CA, Cyr DR, Mack LA, Weinberger E. 1990. Prenatal diagnosis of schizencephaly. J Ultrasound Med 9: 304-307.
24. Lau KY, Tam W, Lam PK, Wood BP. 1993. Radiological cases of the month. Septo-optic dysplasia (De Morsier syndrome). Am J Dis Child 147: 71-72.
25. Mangale VS, Hirokawa KE, Satyaki PR, Gokulchandran N, Chikbire S, Subramanian L, Shetty AS, Martynoga B, Paul J, Mai MV, Li Y, Flanagan LA, Tole S, Monuki ES. 2008. Lhx2 selector activity specifies cortical identity and suppresses hippocampal organizer fate. Science 319: 304-309.
26. Merello E, Swanson E, De Marco P, Akhter M, Striano P, Rossi A, Cama A, Leventer RJ, Guerrini R, Capra V, Dobyns WB. 2008. No major role for the EMX2 gene in schizencephaly. Am J Med Genet Part A 146A: 1142-1150.
27. Mitchell LA, Thomas PQ, Zacharin MR, Scheffer IE. 2002. Ectopic posterior pituitary lobe and periventricular heterotopia: Cerebral malformations with the same underlying mechanism? Am J Neuroradiol 23: 1475-1481.
28. Monuki ES, Walsh CA. 2001. Mechanisms of cerebral cortical patterning in mice and humans. Nat Neurosci 4(Suppl): 1199-1206.
29. Robinson RO. 1991. Familial schizencephaly. Dev Med Child Neurol 33: 1010-1012.
30. Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson IC, Beddington RS. 2001. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet 10: 39-45.
31. Tietjen I, Erdogan F, Currier S, Apse K, Chang BS, Hill RS, Lee CK, Walsh CA. 2005. EMX2-independent familial schizencephaly: Clinical and genetic analyses. Am J Med Genet Part A 135A: 166-170.
32. Tietjen I, Bodell A, Apse K, Mendonza AM, Chang BS, Shaw GM, Barkovich AJ, Lammer EJ, Walsh CA. 2007. Comprehensive EMX2 genotyping of a large schizencephaly case series. Am J Med Genet Part A 143A: 1313-1316.
33. Wales JK, Quarrell OW. 1996. Evidence for possible Mendelian inheritance of septo-optic dysplasia. Acta Paediatr 85: 391-392.
34. Yakovlev PI, Wadsworth RC. 1946a. Schizencephalies: A study of the congenital clefts in the cerebral mantle, II: Clefts with hydrocephalus and lips separated. J Neuropathol Exp Neurol 5: 169-206.
35. Yakovlev PI, Wadsworth RC. 1946b. Schizencephalies: A study of the congenital clefts in the cerebral mantle, I: Clefts with fused lips. J Neuropath Exp Neurol 5: 116-130.