Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma

Annals of Clinical and Translational Neurology

Volumn 3, Issue 5, 2016, Pages 356-365

  Saitsu, Hirotomo ^a,b   Sonoda, Masaki ^c   Higashijima, Takefumi ^c   Shirozu, Hiroshi ^c   Masuda, Hiroshi ^c   Tohyama, Jun ^c   Kato, Mitsuhiro ^d   Nakashima, Mitsuko ^a   Tsurusaki, Yoshinori ^e   Mizuguchi, Takeshi ^a   Miyatake, Satoko ^a   Miyake, Noriko ^a   Kameyama, Shigeki ^c   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NISHI NIIGATA CHUO NATIONAL HOSPITAL   (Japan)

^d SHOWA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR GLI1; TRANSCRIPTION FACTOR GLI3;

ALLELE; AMPLICON; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXOME; EXPRESSION VECTOR; FEMALE; GENE; GENE FREQUENCY; GENETIC DISORDER; GENOTYPE; GERMLINE MUTATION; GLI3 GENE; HAMARTOMA; HUMAN; HYPOTHALAMUS TUMOR; LUCIFERASE ASSAY; MALE; MOLECULAR PATHOLOGY; NONSENSE MUTATION; OFD1 GENE; ORAL FACIAL DIGITAL SYNDROME; PALLISTER HALL SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; WILD TYPE;

EID: 85009936213     PISSN: None     EISSN: 23289503     Source Type: Journal    
DOI: 10.1002/acn3.300     Document Type: Article

References (45)

1. Berkovic SF, Andermann F, Melanson D, et al. Hypothalamic hamartomas and ictal laughter: evolution of a characteristic epileptic syndrome and diagnostic value of magnetic resonance imaging. Ann Neurol 1988;23:429-439.
2. Kerrigan JF, Ng YT, Chung S, Rekate HL. The hypothalamic hamartoma: a model of subcortical epileptogenesis and encephalopathy. Semin Pediatr Neurol 2005;12:119-131.
3. Wu J, Xu L, Kim DY, et al. Electrophysiological properties of human hypothalamic hamartomas. Ann Neurol 2005;58:371-382.
4. Fenoglio KA, Wu J, Kim do Y, et al. Hypothalamic hamartoma: basic mechanisms of intrinsic epileptogenesis. Semin Pediatr Neurol 2007;14:51-59.
5. 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;76:609-622.
6. Del Giudice E, Macca M, Imperati F, et al. CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. Orphanet J Rare Dis 2014;9:74.
7. Darmency-Stamboul V, Burglen L, Lopez E, et al. Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. Eur J Med Genet 2013;56:301-308.
8. Johnston JJ, Sapp JC, Turner JT, et al. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat 2010;31:1142-1154.
9. Kang S, Graham JM Jr, Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 1997;15:266-268.
10. Demurger F, Ichkou A, Mougou-Zerelli S, et al. New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet 2015;23:92-102.
11. Ruiz i Altaba A, Palma V, Dahmane N. Hedgehog-Gli signalling and the growth of the brain. Nat Rev Neurosci 2002;3:24-33.
12. Macca M, Franco B. The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin Med Genet 2009;151C:318-325.
13. Ferrante MI, Giorgio G, Feather SA, et al. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet 2001;68:569-576.
14. Romio L, Wright V, Price K, et al. OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. J Am Soc Nephrol 2003;14:680-689.
15. Giorgio G, Alfieri M, Prattichizzo C, et al. Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex. Mol Biol Cell 2007;18:4397-4404.
16. Coene KL, Roepman R, Doherty D, et al. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet 2009;85:465-481.
17. Quinlan RJ, Tobin JL, Beales PL. Modeling ciliopathies: primary cilia in development and disease. Curr Top Dev Biol 2008;84:249-310.
18. Ferrante MI, Zullo A, Barra A, et al. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet 2006;38:112-117.
19. Lopez E, Thauvin-Robinet C, Reversade B, et al. C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet 2014;133:367-377.
20. Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet 2015;31:382-392.
21. Poduri A, Evrony GD, Cai X, Walsh CA. Somatic mutation, genomic variation, and neurological disease. Science 2013;341:1237758.
22. Lee JH, Huynh M, Silhavy JL, et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet 2012;44:941-945.
23. Riviere JB, Mirzaa GM, O'Roak BJ, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 2012;44:934-940.
24. Craig DW, Itty A, Panganiban C, et al. Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus. Am J Hum Genet 2008;82:366-374.
25. Wallace RH, Freeman JL, Shouri MR, et al. Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures. Neurology 2008;70:653-655.
26. Kameyama S, Shirozu H, Masuda H, et al. MRI-guided stereotactic radiofrequency thermocoagulation for 100 hypothalamic hamartomas. J Neurosurg 2015;20:1-10.
27. Saitsu H, Nishimura T, Muramatsu K, et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 2013;45:445-449, 9e1.
28. DePristo MA, Banks E, Poplin R, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2011;43:491-498.
29. Cibulskis K, Lawrence MS, Carter SL, et al. Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat Biotechnol 2013;31:213-219.
30. Koboldt DC, Zhang Q, Larson DE, et al. VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res 2012;22:568-576.
31. Niwa H, Yamamura K, Miyazaki J. Efficient selection for high-expression transfectants with a novel eukaryotic vector. Gene 1991;108:193-199.
32. Megason SG, McMahon AP. A mitogen gradient of dorsal midline Wnts organizes growth in the CNS. Development 2002;129:2087-2098.
33. Sasaki H, Hui C, Nakafuku M, Kondoh H. A binding site for Gli proteins is essential for HNF-3β floor plate enhancer activity in transgenics and can respond to Shh in vitro. Development 1997;124:1313-1322.
34. Saitsu H, Komada M, Suzuki M, et al. Expression of the mouse Fgf15 gene is directly initiated by Sonic hedgehog signaling in the diencephalon and midbrain. Dev Dyn 2005;232:282-292.
35. Saitsu H, Tohyama J, Kumada T, et al. Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Am J Hum Genet 2010;86:881-891.
36. Azukizawa T, Yamamoto M, Narumiya S, Takano T. Oral-facial-digital syndrome type 1 with hypothalamic hamartoma and Dandy-Walker malformation. Pediatr Neurol 2013;48:329-332.
37. Gilbert SF. Developmental biology. 8th ed. Sunderland, MA: Sinauer Associates, 2006.
38. Nakamura T, Aikawa T, Iwamoto-Enomoto M, et al. Induction of osteogenic differentiation by hedgehog proteins. Biochem Biophys Res Commun 1997;237:465-469.
39. Rakkolainen A, Ala-Mello S, Kristo P, et al. Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1. J Med Genet 2002;39:292-296.
40. Bimonte S, De Angelis A, Quagliata L, et al. Ofd1 is required in limb bud patterning and endochondral bone development. Dev Biol 2011;349:179-191.
41. Liu YP, Tsai IC, Morleo M, et al. Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. J Clin Invest 2014;124:2059-2070.
42. Shin SH, Kogerman P, Lindstrom E, et al. GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization. Proc Natl Acad Sci USA 1999;96:2880-2884.
43. Bose J, Grotewold L, Ruther U. Pallister-Hall syndrome phenotype in mice mutant for Gli3. Hum Mol Genet 2002;11:1129-1135.
44. Guimiot F, Marcorelles P, Aboura A, et al. Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. Am J Med Genet A 2009;149A:1108-1115.
45. Meissner B, Kridel R, Lim RS, et al. The E3 ubiquitin ligase UBR5 is recurrently mutated in mantle cell lymphoma. Blood 2013;121:3161-3164.