Agnathia-otocephaly complex: A case report and examination of the OTX2 and PRRX1 genes

Gene

Volumn 494, Issue 1, 2012, Pages 124-129

  Herman, Sean ^a   Delio, Maria ^b   Morrow, Bernice ^b   Samanich, Joy ^b  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b MONTEFIORE MEDICAL CENTER   (United States)

Author keywords

Agnathia; Craniofacial; Otocephaly; OTX2; PRRX1

Indexed keywords

GENOMIC DNA; HOMEODOMAIN PROTEIN; PRRX1 PROTEIN; TRANSCRIPTION FACTOR OTX2; UNCLASSIFIED DRUG;

AGNATHIA OTOCEPHALY; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DNA SEQUENCE; EAR MALFORMATION; GENE ISOLATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; LOW SET EAR; MALE; MALFORMATION SYNDROME; MICROGNATHIA; MICROSTOMIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PALPEBRAL FISSURE ANOMALY; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EAR; HOLOPROSENCEPHALY; HOMEODOMAIN PROTEINS; HUMANS; INFANT, NEWBORN; JAW ABNORMALITIES; OTX TRANSCRIPTION FACTORS;

EID: 84856091379     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2011.11.033     Document Type: Article

References (51)

1. Bixler D., Ward R., Gale D.D. Agnathia-holoprosencephaly: a developmental field complex involving face and brain. Report of 3 cases. J. Craniofac. Genet. Dev. Biol. Suppl. 1985, 1:241-249.
2. Chassaing N., et al. The American Society of Human Genetics 2010 Annual Meeting: Diverse Approaches Uncover Mendelian Disorders, Washington, DC 2010.
3. Cottrall K., et al. A case of proximal 14 trisomy with pathological findings. J. Ment. Defic. Res. 1981, 25:1-6.
4. Cserjesi P., Lilly B., Bryson L., Wang Y., Sassoon D.A., Olson E.N. MHox: a mesodermally restricted homeodomain protein that binds an essential site in the muscle creatine kinase enhancer. Development 1992, 115:1087-1101.
5. Doufexi A.E., Mina M. Signaling pathways regulating the expression of Prx1 and Prx2 in the chick mandibular mesenchyme. Dev. Dyn. 2008, 237:3115-3127.
6. Erlich M.S., Cunningham M.L., Hudgins L. Transmission of the dysgnathia complex from mother to daughter. Am. J. Med. Genet. 2000, 95:269-274.
7. Gekas J., Li B., Kamnasaran D. Current perspectives on the etiology of agnathia-otocephaly. Eur. J. Med. Genet. 2010, 53:358-366.
8. Gorlin R.J., Cohen M.M., Hennekam R.C.M. Syndromes of the Head and Neck 2001, Oxford University Press, New York, NY.
9. Grobe K., Inatani M., Pallerla S.R., Castagnola J., Yamaguchi Y., Esko J.D. Cerebral hypoplasia and craniofacial defects in mice lacking heparan sulfate Ndst1 gene function. Development 2005, 132:3777-3786.
10. Hide T., et al. Genetic modifiers of otocephalic phenotypes in Otx2 heterozygous mutant mice. Development 2002, 129:4347-4357.
11. Hinojosa R., Green J.D., Brecht K., Robb R.A. Otocephalus: histopathology and three-dimensional reconstruction. Otolaryngol. Head Neck Surg. 1996, 114:44-53.
12. Hwang K.S., Ding D.C., Chang Y.K., Chen W.H., Chu T.Y. Otocephaly. J. Chin. Med. Assoc. 2007, 70:298-301.
13. Ibba R.M., et al. Otocephaly: prenatal diagnosis of a new case and etiopathogenetic considerations. Am. J. Med. Genet. 2000, 90:427-429.
14. Juriloff D.M., Sulik K.K., Roderick T.H., Hogan B.K. Genetic and developmental studies of a new mouse mutation that produces otocephaly. J. Craniofac. Genet. Dev. Biol. 1985, 5:121-145.
15. Kamnasaran D., Morin F., Gekas J. Prenatal diagnosis and molecular genetic studies on a new case of agnathia-otocephaly. Fetal Pediatr. Pathol. 2010, 29:207-211.
16. Kastury K., et al. Chromosome locations of human EMX and OTX genes. Genomics 1994, 22:41-45.
17. Kauvar E.F., et al. Holoprosencephaly and agnathia spectrum: presentation of two new patients and review of the literature. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C:158-169.
18. Kern M.J., Witte D.P., Valerius M.T., Aronow B.J., Potter S.S. A novel murine homeobox gene isolated by a tissue specific PCR cloning strategy. Nucleic Acids Res. 1992, 20:5189-5195.
19. Khan A., Bourgeois J., Mohide P. Agnathia-otocephaly complex in a fetus with maternal use of topical 1% salicylate. Clin. Dysmorphol. 2008, 17:75-76.
20. Kimura C., Takeda N., Suzuki M., Oshimura M., Aizawa S., Matsuo I. Cis-acting elements conserved between mouse and pufferfish Otx2 genes govern the expression in mesencephalic neural crest cells. Development 1997, 124:3929-3941.
21. Larsen K.B., Lutterodt M.C., Mollgard K., Moller M. Expression of the homeobox genes OTX2 and OTX1 in the early developing human brain. J. Histochem. Cytochem. 2010, 58:669-678.
22. Leech R.W., Bowlby L.S., Brumback R.A., Schaefer G.B. Agnathia, holoprosencephaly, and situs inversus: report of a case. Am. J. Med. Genet. 1988, 29:483-490.
23. Lu M.F., et al. prx-1 functions cooperatively with another paired-related homeobox gene, prx-2, to maintain cell fates within the craniofacial mesenchyme. Development 1999, 126:495-504.
24. Martin J.F., Bradley A., Olson E.N. The paired-like homeo box gene MHox is required for early events of skeletogenesis in multiple lineages. Genes Dev. 1995, 9:1237-1249.
25. Matsuo I., Kuratani S., Kimura C., Takeda N., Aizawa S. Mouse Otx2 functions in the formation and patterning of rostral head. Genes Dev. 1995, 9:2646-2658.
26. Moore K. The Developing Human: Clinically Oriented Embryology 1982, Saunders, Philadelphia, PA.
27. Norris R.A., et al. Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. Mamm. Genome 2000, 11:1000-1005.
28. Ofori B., Oraichi D., Blais L., Rey E., Berard A. Risk of congenital anomalies in pregnant users of non-steroidal anti-inflammatory drugs: a nested case-control study. Birth Defects Res. B Dev. Reprod. Toxicol. 2006, 77:268-279.
29. Ohkubo Y., Chiang C., Rubenstein J.L. Coordinate regulation and synergistic actions of BMP4, SHH and FGF8 in the rostral prosencephalon regulate morphogenesis of the telencephalic and optic vesicles. Neuroscience 2002, 111:1-17.
30. O'Neill B.M., Alessi A.S., Petti N.A. Otocephaly or agnathia-synotia-microstomia syndrome: report of a case. J. Oral Maxillofac. Surg. 2003, 61:834-837.
31. Pauli R.M., Graham J.M., Barr M. Agnathia, situs inversus, and associated malformations. Teratology 1981, 23:85-93.
32. Pauli R.M., Pettersen J.C., Arya S., Gilbert E.F. Familial agnathia-holoprosencephaly. Am. J. Med. Genet. 1983, 14:677-698.
33. Petryk A., et al. The mammalian twisted gastrulation gene functions in foregut and craniofacial development. Dev. Biol. 2004, 267:374-386.
34. Ragge N.K., et al. Heterozygous mutations of OTX2 cause severe ocular malformations. Am. J. Hum. Genet. 2005, 76:1008-1022.
35. Rahmani R., et al. Otocephaly: prenatal sonographic diagnosis. J. Ultrasound Med. 1998, 17:595-598.
36. Santagati F., Rijli F.M. Cranial neural crest and the building of the vertebrate head. Nat. Rev. Neurosci. 2003, 4:806-818.
37. Schiffer C., Tariverdian G., Schiesser M., Thomas M.C., Sergi C. Agnathia-otocephaly complex: report of three cases with involvement of two different Carnegie stages. Am. J. Med. Genet. 2002, 112:203-208.
38. Schilter K.F., et al. OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. Clin. Genet. 2010, 79:158-168.
39. Schmotzer C.L., Shehata B.M. Two cases of agnathia (otocephaly): with review of the role of fibroblast growth factor (FGF8) and bone morphogenetic protein (BMP4) in patterning of the first branchial arch. Pediatr. Dev. Pathol. 2008, 11:321-324.
40. Sergi C., Kamnasaran D. PRRX1 is mutated in a fetus with agnathia-otocephaly. Clin. Genet. 2011, 79:293-295.
41. Shermak M.A., Dufresne C.R. Nonlethal case of otocephaly and its implications for treatment. J. Craniofac. Surg. 1996, 7:372-375.
42. Simeone A., Acampora D., Gulisano M., Stornaiuolo A., Boncinelli E. Nested expression domains of four homeobox genes in developing rostral brain. Nature 1992, 358:687-690.
43. Simeone A., et al. A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo. EMBO J. 1993, 12:2735-2747.
44. Stevenson R.E., Hall J.G., Goodman R.M. Human Malformations and Related Anomalies 1993, Oxford University Press, New York, NY.
45. Suda Y., Nakabayashi J., Matsuo I., Aizawa S. Functional equivalency between Otx2 and Otx1 in development of the rostral head. Development 1999, 126:743-757.
46. ten Berge D., et al. Prx1 and Prx2 are upstream regulators of sonic hedgehog and control cell proliferation during mandibular arch morphogenesis. Development 2001, 128:2929-2938.
47. Thauvin-Robinet C., et al. Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis. Prenat. Diagn. 2002, 22:710-714.
48. Ueda Y., et al. PGAP1 knock-out mice show otocephaly and male infertility. J. Biol. Chem. 2007, 282:30373-30380.
49. Wright S. On the genetics of subnormal development of the head (otocephaly) in the guinea pig. Genetics 1934, 19:471-505.
50. Wyatt A., et al. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum. Mutat. 2008, 29:E278-E283.
51. Yagi T., et al. A novel ES cell line, TT2, with high germline-differentiating potency. Anal. Biochem. 1993, 214:70-76.