Axenfeld-Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1695-1701

  Titheradge, Hannah ^a   Togneri, Fiona ^a   Mcmullan, Dominic ^a   Brueton, Louise ^a   Lim, Derek ^a   Williams, Denise ^a  

^a BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

4q25 microdeletion; Axenfeld Rieger syndrome; Micorarray; PITX2

Indexed keywords

NEUROGENIN 2; TRANSCRIPTION FACTOR PITX2;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AXENFELD RIEGER SYNDROME; CASE REPORT; CHILD; CHROMOSOME 4Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; DNA MICROARRAY; FEMALE; GENE; GENE EXPRESSION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LEARNING DISORDER; MALE; MICROARRAY ANALYSIS; NDST3 GENE; NEUROG2 GENE; PITX2 GENE; PRIORITY JOURNAL; PROGNOSIS; PRSS12 GENE; SCHOOL CHILD; UGT8 GENE; X CHROMOSOME INACTIVATION; ANTERIOR EYE SEGMENT; CHROMOSOME 4; CHROMOSOME BANDING PATTERN; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; EYE ABNORMALITIES; FACIES; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ASSOCIATION; GENETICS; PHENOTYPE; PRESCHOOL CHILD;

ADULT; ANTERIOR EYE SEGMENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; COMPARATIVE GENOMIC HYBRIDIZATION; EYE ABNORMALITIES; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PHENOTYPE;

EID: 84902545263     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36540     Document Type: Article

References (38)

1. Aikawa J, Grobe K, Tsujimoto M, Esko JD. 2001. Multiple isozymes of heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase: Structure and activity of the fourth member, NDST4. J Biol Chem 276:5876-5882.
2. Amendt BA, Semina EV, Alward WLM. 2000. Rieger syndrome: A clinical, molecular, and biochemical analysis. CMLS Cell Mol Life Sci 57:1652-1666.
3. Bosio A, Binczek E, Le Beau MM. 1996. The human gene CGT encoding the UDP-galactose ceramide galactosyl transferase (cerebroside synthase): Cloning, characterization, and assignment to human chromosome 4, BAND q26. Genomics 34:69-75.
4. Becker SA, Popp S, Rager K, Jauch A. 2003. A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature. Eur J Paediatr 162:267-270.
5. Chudley AE, Verma MR, Ray M, Riordan D. 1988. Interstitial deletion of the long arm of Chromosome 4. Am J Med Genet 31:549-551.
6. de la Houssaye G, Bieche I, Roche O, Vieira V, Laurendeau I, Arbogast L, Zeghidi H, Rapp P, Halimi P, Vidaud M, Dufier JL, Menasche M, Abitbol M. 2006. Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report. BMC Med Genet 7:82.
7. Engenheiro E, Saraiva J, Carreira I, Ramos L, Ropers H, Silva E, Tommerup N, Tumer Z. 2007. Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome. Clin Genet 72:464-470.
8. Fitch N, Kaback M. 1978. The Axenfeld syndrome and the Rieger syndrome. J Med Genet 15:30-34.
9. Flomen RH, Gorman PA, Vatcheva R, Groet J, Barišić Ligutić I, Sheer D, Nižetić D. 1997. Rieger syndrome locus: A new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193. J Med Genet 34:191-195.
10. Fryns JP, Van Den Berghe H. 1992. Short Communication Rieger syndrome and interstitial 4q26 deletion. Genet Couns 3:153-154.
11. Hedley PL, Jorgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, Kanters JK, Corfield VA, Christiansen M. 2009. The genetic basis of long QT and short QT syndromes: A mutation update. Hum Mutat 30:1486-1511.
12. Heng JI-T, Nguyen L, Castro DS, Zimmer C, Wildner H, Armant O, Skowronska-Krawczyk D, Bedogni F, Matter J-M, Hevner R, Guillemot F. 2008. Neurogenin 2 controls cortical neuron migration through regulation of Rnd2. Nature 455:114-118.
13. Hjalt TA, Semina EV. 2005. Current molecular understanding of Axenfeld-Rieger syndrome. Expert Rev Mol Med 7:1-17.
14. Idrees F, Vaideanu D, Fraser SG, Sowden JC, Khaw PT. 2006. A review of anterior segment dysgeneses. Surv Opthalmol 51:213-230.
15. Jones KL. 2006. Smith's recognizable patterns of human malformations. Philedelphia: Elsevier Saunders. 680-681p.
16. Kamnasaran D, O'Brien P, Zackai EH, Muenke M, Ferguson-Smith MA, Cox DW. 2003. Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome. EJHG 11:315-324.
17. Kulharya AS, Maberry M, Kukolich MK, Day DW, Schneider NR, Wilson GN, Tonk V. 1995. Interstitial Deletions 4q21.1q25 and 4q25q27: Phenotypic variability and relation to Rieger Anomaly. Am J Med Genet 55:165-170.
18. Lines MA, Kozlowski K, Walter MA. 2002. Molecular genetics of Axenfeld-Rieger malformations. Hum Mol Genet 11:1177-1184.
19. Lines M, Kozlowski K, Kulak S, Allingham R, Héon E, Ritch R, Levin A, Shields B, Damji K, Newlin A, Walter M. 2004. Characterisation and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger syndrome. Invest Ophthalmol Vis Sci 45:828-833.
20. Mitchell JA, Packman S, Loughman WD, Fineman RM, Zackai E, Patil SR, Emanuel B, Bartley JA, Hanson JW. 1981. Deletions of different segments of the long arm of chromosome 4. Am J Med Genet 8:73-89.
21. Mohler PJ, Schott J-J, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, Song L-S, Haurogné K, Kyndt F, All ME, Rogers TB, Lederer WJ, Escande D, Le Marec H, Bennett V. 2003. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 421:634-639.
22. Mohler PJ, Le Scouarnec S, Denjoy I, Lowe JS, Guicheney P, Caron L, Driskell IM, Schott J-J, Norris K, Leenhardt A, Kim RB, Escande D, Roden DM. 2007. Defining the cellular phenotype of "Ankyrin-B syndrome" variants: Human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes. Circulation 115:432-441.
23. Molinari F, Rio M, Meskenaite V, Encha-Razavi F, Augé J, Bacq D, Briault S, Vekemans M, Munnich A, Attié-Bitach T, Sonderegger P, Colleaux L. 2002. Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science 298:1779-1781.
24. Moreira L, Schinzel A, Pinto P, Góes F, de Lourdes Falcão M, Barbosa AL, Riegel M. 2010. Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25-q31.1). Am J Med Genet A 152A:977-981.
25. Ogilvie CM, Raymond FL, Harrison RH, Scriven PN, Docherty Z. 1998. A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome. Med Genet 35:234-237.
26. Osio A, Tan L, Chen SN, Lombardi R, Nagueh SF, Shete S, Roberts R, Willerson JT, Marian AJ. 2007. Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy. Circ Res 100:766-768.
27. Posch M, Thiemann L, Tomasov P, Veselka J, Cardim N, Garcia-Castro M, Coto E, Perrot A, Geier C, Dietz R, Haverkamp W, Özcelik C. 2008. Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy. Med Sci Monit 14:CR372-CR374.
28. Raczenbek C, Krassikoff N, Coper P. 1991. Second case report of del(4) (q25q27) and review of the literature. Clin Genet 39:463-466.
29. Ruggiero A, Chen SN, Lombardi R, Rodriguez G, Marian AJ. 2013. Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity. Cardiovasc Res 97:44-54.
30. Schinzel A, Brecevic L, Dutly F, Baumer A, Binkert F, Largo RH. 1997. Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4)(q25q27) secondary to a balanced insertion in his normal father: Evidence for haploinsufficiency causing the Rieger malformation. J Med Genet 34:1012-1014.
31. Shields B. 1983. Axenfeld-Rieger syndrome: A theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Am Ophthalmol Soc 81:736-784.
32. Strehle E-M, Yu L, Rosenfeld JA, Donkervoort S, Zhou Y, Chen T-J, Martinez JE, Fan Y-S, Barbouth D, Zhu H, Vaglio A, Smith R, Stevens CA, Curry CJ, Ladda RL, Fan ZJ, Fox JE, Martin JA, Abdel-Hamid HZ, McCracken EA, McGillivray BC, Masser-Frye D, Huang T. 2012. Genotype- phenotype analysis of 4q deletion syndrome: Proposal of a critical region. Am J Med Genet Part A 158A:2139-2151.
33. Tanwar M, Kumar R, Goyal A, Kumar M, Dada T, Singh G, Sihota R, Dada R. 2009. Rieger syndrome with multiple chromosomal breaks and chromosome 4 deletion. BMJ Case Rep. doi: 10.1136/bcr.06.2008.0297
34. Thorson L, Bryke C, Rice G, Artzer A, Schilz C, Israel J, Huber S, Laffin J, Raca G. 2010. Clinical and molecular characterisation of overlapping interstitial Xp 21-22 duplications in two unrelated patients. Am J Med Genet A 152A:904-915.
35. Tonoki H, Herada N, Shimokawa O, Yosozumi A, Monzaki K, Satoh K, Kosaki R, Sato A, Matsumoto N, Lizuka S. 2011. Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25. Am J Med Genet A 155A:2925-2932.
36. Tumer Z, Bach-Holm D. 2009. Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. EJHG 17:1527-1539.
37. Vaux C, Sheffield L, Keith CG, Voullaire L. 1992. Evidence that Rieger syndrome maps to 4q25 or 4q27. J Med Genet 29:256-258.
38. Volkmann BA, Zinkevich NS, Mustonen A, Schilter KF, Bosenko DV, Reis LM, Broeckel U, Link BA, Semina EV. 2011. Potential novel mechanism for Axenfeld rieger syndrome: deletion of a distant region containing regulatory elements of PITX2. Invest Ophthalmol Vis Sci 52:1450-1459.