Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

European Journal of Human Genetics

Volumn 21, Issue 12, 2013, Pages 1349-1355

  Goubau, Christophe ^a,b   Devriendt, Koen ^c   Van Der Aa, Nathalie ^d   Crepel, An ^c   Wieczorek, Dagmar ^e   Kleefstra, Tjitske ^f   Willemsen, Marjolein H ^f   Rauch, Anita ^g,h   Tzschach, Andreas ^i,j   De Ravel, Thomy ^c   Leemans, Peter ^b   Van Geet, Chris ^a,b   Buyse, Gunnar ^b   Freson, Kathleen ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^e UNIVERSITY HOSPITAL ESSEN   (Germany)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^h UNIVERSITY OF ZURICH   (Switzerland)

ⁱ MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^j UNIVERSITY OF TÜBINGEN   (Germany)

more..

Author keywords

14q12; cis regulation; deletion; FOXG1; platelet; translocation

Indexed keywords

ADRENALIN; COLLAGEN; MESSENGER RNA;

ADULT; ARTICLE; BLEEDING TIME; CHILD; CHROMOSOME 14Q; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRON MICROSCOPY; FEMALE; FIBROBLAST; FORKHEAD BOX G1 GENE; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETT SYNDROME; SCHOOL CHILD; SKIN FIBROBLAST; THROMBOCYTE; THROMBOCYTE ANOMALY; THROMBOCYTE COUNT; THROMBOCYTE FUNCTION;

HEDERA;

ADULT; BLOOD PLATELETS; BRAIN; CHILD; CHROMOSOMES, HUMAN, PAIR 14; FEMALE; FIBROBLASTS; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; MALE; MUTATION; NERVE TISSUE PROTEINS; RETT SYNDROME; SKIN; TRANSLOCATION, GENETIC;

EID: 84887624334     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.86     Document Type: Article

References (51)

1. Xuan S, Baptista CA, Balas G, Tao W, Soares VC, Lai E: Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres. Neuron 1995; 14: 1141-1152.
2. Danesin C, Peres JN, Johansson M et al: Integration of telencephalic Wnt and hedgehog signaling center activities by Foxg1. Dev Cell 2009; 16: 576-587.
3. Hanashima C, Li SC, Shen L, Lai E, Fishell G: Foxg1 suppresses early cortical cell fate. Science 2004; 303: 56-59.
4. Roth M, Bonev B, Lindsay J et al: FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation. Development 2010; 137: 1553-1562.
5. Hanashima C, Fernandes M, Hebert JM, Fishell G: The role of Foxg1 and dorsal midline signaling in the generation of Cajal-Retzius subtypes. J Neurosci 2007; 27: 11103-11111.
6. Miyoshi G, Fishell G: Dynamic FoxG1 expression coordinates the integration of multipolar pyramidal neuron precursors into the cortical plate. Neuron 2012; 74: 1045-1058.
7. Shen Q, Wang Y, Dimos JT et al: The timing of cortical neurogenesis is encoded within lineages of individual progenitor cells. Nat Neurosci 2006; 9: 743-751.
8. Tian C, Gong Y, Yang Y et al: Foxg1 has an essential role in postnatal development of the dentate gyrus. J Neurosci 2012; 32: 2931-2949.
9. Dastidar SG, Landrieu PM, D'Mello SR: FoxG1 promotes the survival of postmitotic neurons. J Neurosci 2011; 31: 402-413.
10. Dastidar SG, Bardai FH, Ma C et al: Isoform-specific toxicity of Mecp2 in postmitotic neurons: suppression of neurotoxicity by FoxG1. J Neurosci 2012; 32: 2846-2855.
11. Ariani F, Hayek G, Rondinella D et al: FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008; 83: 89-93.
12. Bisgaard AM, Kirchhoff M, Tumer Z et al: Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features. Am J Med Genet A 2006; 140: 2180-2187.
13. Jacob FD, Ramaswamy V, Andersen J, Bolduc FV: Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature. Eur J Hum Genet 2009; 17: 1577-1581.
14. Mencarelli MA, Kleefstra T, Katzaki E et al: 14q12 Microdeletion syndrome and congenital variant of Rett syndrome. Eur J Med Genet 2009; 52: 148-152.
15. Papa FT, Mencarelli MA, Caselli R et al: A 3Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. Am J Med Genet A 2008; 146A: 1994-1998.
16. Kortum F, Das S, Flindt M et al: The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet 2011; 48: 396-406.
17. Shoichet SA, Kunde SA, Viertel P et al: Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Hum Genet 2005; 117: 536-544.
18. Allou L, Lambert L, Amsallem D et al: 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. Eur J Hum Genet 2012; 20: 1216-1223.
19. Santen GW, Sun Y, Gijsbers AC et al: Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus. J Med Genet 2012; 49: 366-372.
20. Ellaway CJ, Ho G, Bettella E et al: 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. Eur J Hum Genet 2013; 21: 522-527.
21. Murphy DB, Wiese S, Burfeind P et al: Human brain factor 1, a new member of the fork head gene family. Genomics 1994; 21: 551-557.
22. Goubau C, Jaeken J, Levtchenko EN et al: Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect. Genet Med 2012; 15: 55-63.
23. Bahi-Buisson N, Nectoux J, Girard B et al: Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Neurogenetics 2010; 11: 241-249.
24. Van der Aa N, Van den Bergh M, Ponomarenko N, Verstraete L, Ceulemans B, Storm K: Analysis of FOXG1 is highly recommended in male and female patients with Rett syndrome. Mol Syndromol 2011; 1: 290-293.
25. Willemsen MH, de Leeuw N, de Brouwer AP et al: Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies. Eur J Med Genet 2012; 55: 586-598.
26. Di Michele M, Thys C, Waelkens E et al: An integrated proteomics and genomics analysis to unravel a heterogeneous platelet secretion defect. J Proteomics 2011; 74: 902-913.
27. Freson K, Jaeken J, Van Helvoirt M et al: Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation. Hum Mol Genet 2003; 12: 1121-1130.
28. Klopocki E, Schulze H, Strauss G et al: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet 2007; 80: 232-240.
29. Freson K, Hashimoto H, Thys C et al: The pituitary adenylate cyclase-activating polypeptide is a physiological inhibitor of platelet activation. J Clin Invest 2004; 113: 905-912.
30. Eagleson KL, Schlueter McFadyen-Ketchum LJ, Ahrens ET et al: Disruption of Foxg1 expression by knock-in of cre recombinase: effects on the development of the mouse telencephalon. Neuroscience 2007; 148: 385-399.
31. Shen L, Nam HS, Song P, Moore H, Anderson SA: FoxG1 haploinsufficiency results in impaired neurogenesis in the postnatal hippocampus and contextual memory deficits. Hippocampus 2006; 16: 875-890.
32. Storm EE, Garel S, Borello U et al: Dose-dependent functions of Fgf8 in regulating telencephalic patterning centers. Development 2006; 133: 1831-1844.
33. Ahlgren S, Vogt P, Bronner-Fraser M: Excess FoxG1 causes overgrowth of the neural tube. J Neurobiol 2003; 57: 337-349.
34. Kamnasaran D, O'Brien PC, Schuffenhauer S et al: Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. Am J Med Genet 2001; 102: 173-182.
35. Torgyekes E, Shanske AL, Anyane-Yeboa K et al: The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature. Am J Med Genet A 2011; 155A: 1884-1896.
36. Brunetti-Pierri N, Paciorkowski AR, Ciccone R et al: Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet 2011; 19: 102-107.
37. Yeung A, Bruno D, Scheffer IE et al: 4.45Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet 2009; 52: 440-442.
38. Tohyama J, Yamamoto T, Hosoki K et al: West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14. Am J Med Genet A 2011; 155A: 2584-2588.
39. Striano P, Paravidino R, Sicca F et al: West syndrome associated with 14q12 duplications harboring FOXG1. Neurology 2011; 76: 1600-1602.
40. Amor DJ, Burgess T, Tan TY, Pertile MD: Questionable pathogenicity of FOXG1 duplication. Eur J Hum Genet 2012; 20: 595-596, author reply 6-7.
41. Kleinjan DJ, Coutinho P: Cis-ruption mechanisms: disruption of cis-regulatory control as a cause of human genetic disease. Brief Funct Genomic Proteomic 2009; 8: 317-332.
42. Eiseler T, Doppler H, Yan IK, Kitatani K, Mizuno K, Storz P: Protein kinase D1 regulates cofilin-mediated F-actin reorganization and cell motility through slingshot. Nat Cell Biol 2009; 11: 545-556.
43. Neul JL, Kaufmann WE, Glaze DG et al: Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 2010; 68: 944-950.
44. Hatini V, Tao W, Lai E: Expression of winged helix genes, BF-1 and BF-2, define adjacent domains within the developing forebrain and retina. J Neurobiol 1994; 25: 1293-1309.
45. Bernard JJ, Seweryniak KE, Koniski AD et al: Foxp3 regulates megakaryopoiesis and platelet function. Arterioscler Thromb Vasc Biol 2009; 29: 1874-1882.
46. Cornejo MG, Mabialah V, Sykes SM et al: Crosstalk between NOTCH and AKT signaling during murine megakaryocyte lineage specification. Blood 2011; 118: 1264-1273.
47. Freson K, De Vos R, Wittevrongel C et al: The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure. Blood 2005; 106: 2356-2362.
48. Kunert S, Meyer I, Fleischhauer S et al: The microtubule modulator RanBP10 plays a critical role in regulation of platelet discoid shape and degranulation. Blood 2009; 114: 5532-5540.
49. Baviera AM, Zanon NM, Navegantes LC, Kettelhut IC: Involvement of cAMP/Epac/ PI3K-dependent pathway in the antiproteolytic effect of epinephrine on rat skeletal muscle. Mol Cell Endocrinol 2010; 315: 104-112.
50. Kim S, Garcia A, Jackson SP, Kunapuli SP: Insulin-like growth factor-1 regulates platelet activation through PI3-Kalpha isoform. Blood 2007; 110: 4206-4213.
51. O'Brien KA, Gartner TK, Hay N, Du X: ADP-stimulated activation of Akt during integrin outside-in signaling promotes platelet spreading by inhibiting glycogen synthase kinase-3beta. Arterioscler Thromb Vasc Biol 2012; 32: 2232-2240.