Facial dysgenesis: A novel facial syndrome with chromosome 7 deletion p15.1-21.1

American Journal of Medical Genetics

Volumn 117 A, Issue 1, 2003, Pages 47-56

  Hoover Fong, Julie E ^a,b   Cai, J ^a   Cargile, C B ^c   Thomas, G H ^a,c   Patel, A ^a,c   Griffin, C A ^b   Jabs, E W ^a,b,d   Hamosh, A ^a,b  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c KENNEDY KRIEGER INSTITUTE   (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

Anophthalmia; Chromosome 7; Cleft lip palate; Cryptophthalmos; HOXA1; TWIST

Indexed keywords

GENE PRODUCT; HOX PROTEIN; PROTEIN HOXA; PROTEIN HOXA1; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TWIST; UNCLASSIFIED DRUG;

ANOPHTHALMIA; ARTICLE; CASE REPORT; CENTROMERE; CHOANA ATRESIA; CHROMOSOME 7P; CHROMOSOME DELETION; CLEFT LIP; CLEFT PALATE; CRANIOFACIAL MALFORMATION; DISEASE SEVERITY; EAR MALFORMATION; EXTERNAL AUDITORY CANAL; FACE DYSGENESIS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CLUSTER; GENE LOSS; HAPLOTYPE; HOMEOBOX; HUMAN; KIDNEY MALFORMATION; MICROGNATHIA; NEWBORN; NOSE MALFORMATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; CHROMOSOME 7; CHROMOSOME BANDING PATTERN; CONGENITAL MALFORMATION; FACE; GENETICS; KARYOTYPING; REVIEW; SYNDROME;

CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; FACE; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; SYNDROME;

EID: 0038750675     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10046     Document Type: Article

References (52)

1. Bennet CP, Betts DR, Seller MJ. 1991. Deletion 14q(q22q23) associated with anophthalmia, absent pituitary, and other abnormalities. J Med Genet 28:280-281.
2. Bianchi DW, Cirillo-Silengo M, Luzzatti L, Greenstein RM. 1981. Interstitial deletion of the short arm chromosome 7 without craniosynostosis. Clin Genet 19:456-461.
3. Bierich JR, Christie M, Heinrich JJ, Martinez AS. 1991. New observations on midline defects: Coincidence of anophthalmos, microphthalmos, and cryptophthalmos with hypothalamic disorders. Eur J Peds 150: 246-249.
4. Brooks M, Zeitman A. 1994. Color atlas of clinical embryology. Philadelphia, PA: W.B. Saunders Company. pp 221-230.
5. Chotai KA, Brueton LA, van Herwerden L, Garrett C, Hinkel Gk, Schinzel A, Mueller RF, Speleman F, Winter RM. 1994. Six cases of 7p deletion: Clinical, cytogenetic, and molecular studies. Am J Med Genet 51: 270-276.
6. Crawfurd M, Kessel I, Liberman M, McKeown JA, Mandalia PY, Ridler MAC. 1979. Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities. J Med Genet 16:453-460.
7. Dhadial RK, Smith MF. 1979. Terminal 7p deletion and 1;7 translocation associated with craniosynostosis. Hum Genet 50:285-289.
8. Elliott J, Maltby EL, Reynolds B. 1993. A case of deletion of 14q22.1→q22.3 associated with anophthalmia and pituitary abnormalitis. J Med Genet 30:251-252.
9. Friedrich U, Lyngbye T, Oster J. 1975. A girl with karyotype 46, XX, del(7)(pter-p15). Humangenetik 26:161-165.
10. Garcia-Esquivel L, Garci-Cruz D, Rivera H, Plascencia ML, Cantu JM. 1986. De novo del(7)(pter-
11. Grebe TA, Stevens MA, Byrne-Essif K, Cassidy SB. 1992. 7p deletion syndrome: An adult with mild manifestations. Am J Med Genet 44: 18-23.
12. Gripp KW, Zackai EH, Stolle CA. 2000. Mutations in the human TWIST gene. Hum Mut 15:150-155.
13. Guion-Almeida ML, Richieri-Costa A. 1999. New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting. Am J Med Genet 87:237-244.
14. Hinkel GK, Tolkendorf E, Bergen J. 1988. 7p-deletions-syndrom. Monatsschr Kinderheilkd 136:824-827.
15. Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, DeLuna REO, Delgado CG, Gonzalez-Ramos M, Kline AD, Jabs EW. 1997. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 15(1):36-41.
16. Johnson D, Horsley SW, Moloney DM, Oldridge M, Twigg SRF, Walsh S, Barrow M, Njolstad PR, Kunz J, Ashworth GJ, Wall SA, Kearney L, Wilkie AOM. 1998. A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am J Hum Genet 63:1282-1293.
17. Kikkawa K, Narahara K, Tsuji K, Kubo T, Yokoyama Y, Seino Y. 1993. Is loss of band 7p21 really critical for manifestation of craniosynostosis in 7p-? Am J Med Genet 45:108-110.
18. Ledbetter DH, Engel E. 1995. Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4(review): 1757-1764.
19. Leichtman L, Wood B, Rohn R. 1994. Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder in a newborn: A midline developmental field defect. Am J Med Genet 50:39-41.
20. Lemyre E, Lemieux N, Decarie JC, Lamber M. 1998. Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia. Am J Med Genet 77:162-165.
21. Leong L, Brickell PM. 1996. Bone morphogenetic protein-4. Int J Biochem Cell Bio 28(12):1293-1296.
22. Lewanda AF, Green ED, Weissenbach J, Jerald H, Taylor E, Summar ML, Phillips JA, Cohen M, Feingold M, Mouradian W, Clarren SK, Jabs EW. 1994. Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient. Am J Hum Genet 55:1195-1201.
23. Marks K, Hill L, Chitham RG, Whitehouse WL. 1985. Interstitial deletion of chromosome 7p detected antenatally. J Med Genet 22:316-318.
24. McPherson E, Hall JG, Hickman R, Gong BT, Norwood TH, Hoehn H. 1976. Chromosome 7 short arm deletion and craniosynostosis a 7p-syndrome. Hum Genet 35:117-123.
25. Miller M, Kaufman G, Reed G, Bilenker R, Schinzel A. 1979. Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15-7p21. Am J Med Genet 4:323-332.
26. Moedjono SJ, Funderburk SJ, Sparkes RS. 1978. Chromosome 7 short-arm interstitial deletion (p14). Hum Genet 44:51-57.
27. Mohan RR, Kim W, Mohan RR, Chen L, Wilson SE. 1998. Bone morphogenic proteins 2 and 4 and their receptors in the adult human cornea. Invest OphthVis Sci 39(13):2626-2636.
28. Moore KL. 1988. The developing human. Philadelphia: W.B. Saunders Company. pp 65-85, 170-203, 402-418.
29. Morrison AD. 1998. 1 + 1 = r4 and much much more. BioEssays 20:794-797.
30. Motegi T, Ohuchi M, Ohtaki C, Fujiwara K, Enomoto S, Hasegawa T, Kishi K, Hayakawa H. 1985. A craniosynostosis in a boy with a del(7)(p15.3p21.3): Assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21. Hum Genet 71:160-162.
31. Muller U, Staudt F, Hameister H. 1981. A patient with interstitial deletion 7(p13→p21). Ann Genet 24(4):239-241.
32. Nakagome Y, Teramura F, Kataoka K, Hosono F. 1976. Mental retardation, malformation syndrome, and partial 7p monosomy [45,XX,tdic(7;15)-(p21;p11)]. Clin Genet 9:621-624.
33. National Center for Biotechnology Institute. 2001. www.ncbi.nlm.nih.gov
34. Pankau R, Partsch CJ, Janig U, Meinecke R. 1994. Fraser (cryptophthalmos-syndactyly) syndrome: A case with bilateral anophthalmia but presence of normal eyelids. Genet Couns 5(2):191-194.
35. Paznekas WA, Cunningham ML, Howard TD, Dorf BR, Lipson MH, Grix AW, Feingold M, Goldberg R, Brorchowitz Z, Aleck K, Mulliken J, Yin M, Jabs EW. 1998. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Am J Hum Genet 62:1370-1380.
36. Pettigrew AL, Greenberg F, Caskey CT, Ledbetter DH. 1991. Greig syndrome associated with an interstitial deletion of 7p: Confirmation of the localization of Greig syndrome to 7p13. Hum Genet 87:452-456.
37. Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J, Gray J. 1988. Fluorescence in situ hybridization with human chromosomes-specific libraries: Detection of trisomy21 and translocations of chromosome 4. Proc Natl Acad Sci USA 85(23):9138-9142.
38. Preece MA, Abu-Amero SN, Abu-Amero KK, Wakeling EL, Stanier P, Moore GE. 1999. An analysis of the distribution of hetero-and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands. J Med Genet 36:457-460.
39. Ramsing M, Rehder H, Holzgreve W, Meinecke P, Lenz W. 1990. Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn. Clin Genet 37:84-96.
40. Reardon W, McManus SP, Summers D, Winter RM. 1993. Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2. Am J Med Genet 47:633-636.
41. Reid CS, McMorrow LE, McDonald-McGinn DM, Grace KJ, Ramos FJ, Zackai EH, Cohen MM, Jabs EW. 1993. Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. Am J Med Genet 47:637-639.
42. Rose CSP, Patel P, Reardon W, Malcolm S, Winter RM. 1997. The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases. Hum Mol Genet 6(8):1369-1373.
43. Saal HM, Traboulsi EI, Gavaris P, Samango-Sprouse A, Parks M. 1992. Dominant syndrome with isolated cryptophthalmos and ocular anomalies. Am J Med Genet 43:785-788.
44. Schomig-Spingler M, Schmid M, Brosi W, Grimm T. 1986. Chromosome 7 short arm deletion, 7p21→pter. Hum Genet 74:323-325.
45. The Genome Database. 2001. www.gdb.org
46. Thomas IT, Frias JL, Felix V, deLeon S, Hernandez RA, Jones MC. 1986. Isolated and syndromic cryptophthalmos. Am J Med Genet 25: 85-98.
47. Thompson JR, Chen SW, Ho L, Langston AW, Gudas LJ. 1998. An evolutionary conserved element is essential for somite and adjacent mesenchymal expression of the Hoxal gene. Dev Dyn 211:97-108.
48. Traboulsi E. 1993. Anophthalmia. In: Stevenson RE, Hall JG, Goodman RM, editors. Human malformations and related anomalies. Oxford monographs on medical genetics no. 27. New York: Oxford University press. pp 163-165, 167-170.
49. Tsuji K, Narahara K, Kikkawa K, Murakami M, Yokoyama Y, Ninomiya S, Seino Y. 1994. Craniosynostosis and hemizygosity for D7S 135 caused by a de novo and apparently balanced t(6;7) translocation. Am J Med Genet 49:98-102.
50. Wagner K, Kroisel PM, Rosenkranz W. 1990. Molecular and cytogenetic analysis in two patients with Microdeletions of 7p and Greig syndrome: Hemizygosity for PGAM2 and TCRG genes. Genomics 8: 487-491.
51. Wang C, Maynard S, Glover TW, Biesecker LG. 1992. Mild phenotypic manifestations of a 7p15.3p21.2 deletion. J Med Genet 30:610-612.
52. Zneimer SM, Cotter PD, Sterart SD. 2000. Telomere-telomere (end to end) fusion of chromosomes 7 and 22 with an interstitial deletion of chromosomes 7p11.2→15.1: Phenotypic consequences and possible mechanisms. Clin Genet 58:129-133.