Non-random maternal X-chromosome inactivation associated with PHACES

Clinical Genetics

Volumn 72, Issue 4, 2007, Pages 345-350

  Levin, J H ^a   Kaler, S G ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Hemangioma; PHACES syndrome; Sternal cleft; Supraumbilical raphe; X inactivation

Indexed keywords

ANDROGEN RECEPTOR;

ADULT; ARTICLE; CASE REPORT; CEREBROVASCULAR MALFORMATION; CHROMOSOME ANALYSIS; CLINICAL FEATURE; FAMILY HISTORY; FEMALE; GENDER BIAS; GENE LOCUS; GENE MUTATION; HEMANGIOMA; HUMAN; MICROGNATHIA; PHACES SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; STERNUM; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; ARTERIES; CHROMOSOMES, HUMAN, X; CRANIAL FOSSA, POSTERIOR; FEMALE; HEMANGIOMA; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; RETT SYNDROME; SKIN DISEASES; SYNDROME; X CHROMOSOME INACTIVATION;

EID: 34548572843     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00851.x     Document Type: Article

References (29)

1. Krol A, MacArthur CJ. Congenital hemangiomas: Rapidly involuting and noninvoluting congenital hemangiomas. Arch Facial Plast Surg 2005: 7: 307-311.
2. Metry DW. Potential complications of segmental hemangiomas of infancy. Semin Cutan Med Surg 2004: 23: 107-115.
3. Haggstrom AN, Lammer EJ, Schneider RA, Marcucio R, Frieden IJ. Patterns of infantile hemangiomas: New clues to hemangioma pathogenesis and embryonic facial development. Pediatrics 2006: 117: 698-703.
4. Frieden IJ, Reese V, Cohen D. PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol 1996: 132: 307-311.
5. Metry DW, Dowd CF, Barkovich AJ, Frieden IJ. The many faces of PHACE syndrome. J Pediatr 2001: 139: 117-123.
6. Kaler SG, Thackray H. Sternal cleft with supraumbilical midline raphe and hemangiomas: Sn X-linked lethal syndrome? Am J Hum Genet 2000: 67 (Suppl.): A117/589.
7. Gorlin RJ, Kantaputra P, Aughton DJ, Mulliken JB. Marked female predilection in some syndromes associated with facial hemangiomas. Am J Med Genet 1994: 52: 130-135.
8. Geller JD, Topper SF, Hashimoto K. Diffuse neonatal hemangiomatosis: A new constellation of findings. J Am Acad Dermatol 1991: 24 (5 Pt 2): 816-818.
9. Pasic M, Carrel T, Tonz M, Niederhauser U, Von Segesser LK, Turina MI. Sternal cleft associated with vascular anomalies and micrognathia. Ann Thorac Surg 1993: 56: 165-168.
10. Reese V, Frieden IJ, Paller AS et al. Association of facial hemangiomas with Dandy-Walker and other posterior fossa malformations. J Pediatr 1993: 122: 379-384.
11. Kishnani P, Iafolla AK, McConkie-Rosell A et al. Hemangioma, supraumbilical midline raphe, and coarctation of the aorta with a right aortic arch: Single causal entity? Am J Med Genet 1995: 59: 44-48.
12. Crisponi G, Marras AR, Corrias A et al. Two patients with varying combinations of sternal cleft, haemangiomas, midline abdominal raphe, coarctation of the aorta with a right aortic arch. Clin Dysmorphol 2000: 9: 103-106.
13. Raas-Rothschild A, Nir A, Gillis R, Rein AJ. Giant congenital aortic aneurysm with cleft sternum, supraumbilical raphe, and hemangiomatosis: report and review. Am J Med Genet 2000: 90: 243-245.
14. Yapicioglu H, Narli N, Satar M et al. A newborn infant with sternal malformation/vascular dysplasia association. Genet Couns 2002: 13: 35-39.
15. Smith DS, Lee KK, Milczuk HA. Otolaryngologic manifestations of PHACE syndrome. Int J Pediatr Otorhinolaryngol 2004: 68: 1445-1450.
16. Wendelin G, Kitzmuller E, Salzer-Muhar U. PHACES: A neurocutaneous syndrome with anomalies of the aorta and supraaortic vessels. Cardiol Young 2004: 14: 206-209.
17. Kronenberg A, Blei F, Ceisler E et al. Ocular and systemic manifestations of PHACES (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects and coarctation of the Aorta, Eye abnormalities, and Sternal abnormalities or ventral developmental defects) syndrome. J AAPOS 2005: 9: 169-173.
18. Durusoy C, Mihci E, Tacoy S, Ozaydin E, Alpsoy E. PHACES syndrome presenting as hemangiomas, sternal clefting and congenital ulcerations on the helices. J Dermatol 2006: 33: 219-222.
19. Torer B, Gulcan H, Kilicdag H, Derbent M. PHACES syndrome with small, late-onset hemangiomas. Eur J Pediatr 2007. DOI: 10.1007/ s00431-006-0391-x.
20. Zoghbi HY, Percy AK, Schultz RJ, Fill C. Patterns of X chromosome inactivation in the Rett syndrome. Brain Dev 1990: 12: 131-135.
21. Van den Veyver IB, Zoghbi HY. Genetic basis of Rett syndrome. Ment Retard Dev Disabil Res Rev 2002: 8: 82-86.
22. Van den Veyver IB. Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: Are they related X-linked dominant male-lethal disorders? Cytogenet Genome Res 2002: 99: 289-296.
23. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet 1995: 57: 1233-1241.
24. Thomas GH. High male:fEmale raAio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders. Am J Hum Genet 1996: 58: 1364-1368.
25. Metry DW, Haggstrom AN, Drolet BA et al. A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications. Am J Med Genet 2006: Part A 140A: 975-986.
26. Amos-Landgraf JM, Cottle A, Plenge RM et al. X chromosome-inactivation patterns of 1,005 phenotypically unaffected females. Am J Hum Genet 2006: 79: 493-499.
27. Wieland I, Jakubiczka S, Muschke P et al. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet 2004: 74: 1209-1215.
28. Vermeer S, van Oostrom CG, Boetes C et al. A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformations. Clin Dysmorphol 2005: 14: 203-206.
29. Bauters M, Van Esch H, Marynen P, Froyen G. X chromosome array-CGH for the identification of novel X-linked mental retardation genes. Eur J Med Genet 2005: 48: 263-275.