Oculo-Facio-Cardio-Dental Syndrome: Skewed X Chromosome Inactivation in Mother and Daughter Suggest X-linked Dominant Inheritance

American Journal of Medical Genetics

Volumn 123 A, Issue 3, 2003, Pages 261-266

  Hedera, Peter ^a,b   Gorski, Jerome L ^a  

^a UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^b VANDERBILT UNIVERSITY   (United States)

Author keywords

Cataracts; Dental anomalies; X chromosome; X chromosome inactivation

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CATARACT; CLINICAL FEATURE; CONTROLLED STUDY; EYE DISEASE; FACE DYSMORPHIA; FEMALE; HUMAN; HYPOPLASIA; INTESTINE MALROTATION; MICROPHTHALMIA; OCULOFACIOCARDIODENTAL SYNDROME; PRIORITY JOURNAL; SEX DIFFERENCE; TOOTH MALFORMATION; VERTICAL TRANSMISSION; X CHROMOSOME DOMINANT INHERITANCE; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

EID: 0345327694     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20444     Document Type: Article

References (12)

1. Aalfs CM, Oosterwijk JC, von Schooneveld MJ, Begmann CJ, Wabeke KB, Hennekam RCM. 1996. Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: Confirmation of a syndrome? Clin Dysmorphol 5:93-103.
2. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. 1992. Methylation of HpaII and HhaI near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. J Med Genet 51:1229-1239.
3. Gorlin RJ, Marashi AH, Obwegeser HL. 1996. Oculo-facio-cardio-dental (OFCD) syndrome. Am J Med Genet 63:290-292.
4. Gorski JL. 1991. Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: Support for X-linked inheritance and paternal X chromosome mosaicism. Am J Med Genet 40:332-337.
5. Hayward JR. 1980. Cuspid gigantism. Oral Surg Oral Med Oral Pathol 49:500-501.
6. Marashi AH, Gorlin RJ. 1990. Cataracts and radiculomegaly of canines. Oral Surg Oral Med Oral Pathol 70:802-803.
7. Obwegeser HL, Gorlin RJ. 1997. Oculo-facio-cardio-dental (OFCD) syndrome. Clin Dysmorphol 6:281-283.
8. Parrish JE, Scheuerle AE, Lewis RA, Lewy ML, Nelson DL. 1996. Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2. Hum Mol Genet 5:1777-1783.
9. Schulze BRB, Horn D, Kobelt A, Tariverdian G, Stellzig A. 1999. Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: Three new cases and review of nine cases. Am J Med Genet 82:429-435.
10. Wieacker P, Zimmer J, Ropers H-H. 1985. X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance. Clin Genet 28:238-242.
11. Wilkie GJ, Chambers IG. 1990. A very large maxillary cuspid. Oral Surg Oral Med Oral Pathol 70:159-160.
12. Wilkie AOM, Taylor D, Scambler PJ, Baraitser M. 1993. Congenital cataracts, microphthalmia and septal heart defect in two generations: A new syndrome? Clin Dysmorphol 2:114-119.