A Japanese case of oto-palato-digital syndrome type II: An apparent lack of phenotype-genotype correlation

Journal of Human Genetics

Volumn 52, Issue 4, 2007, Pages 370-373

  Kondoh, T ^a   Okamoto, N ^b   Norimatsu, N ^a   Uetani, M ^a   Nishimura, G ^c   Moriuchi, H ^a  

^a NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^c TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

Filamin A gene; FLNA; Genotype phenotype correlation; OPDII; Oto palato digital syndrome type II

Indexed keywords

FILAMIN A;

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CONGENITAL CATARACT; CONGENITAL GLAUCOMA; CONGENITAL HEART MALFORMATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; JAPANESE; MALE; OTO PALATO DIGITAL SYNDROME TYPE 2; SCHOOL CHILD; SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CONTRACTILE PROTEINS; FINGERS; GENOTYPE; HEARING LOSS, BILATERAL; HUMANS; KARYOTYPING; MALE; MICROFILAMENT PROTEINS; MUTATION, MISSENSE; PALATE; PHENOTYPE; SYNDROME;

EID: 33947641463     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0108-7     Document Type: Article

References (20)

1. Andre M, Vigneron J, Didier F (1981) Abnormal facies, cleft palate and generalised dysostosis: a lethal X-linked syndrome. J Pediatr 98:747-752
2. Biancalana V, Le Marec B, Odent S, van den Hurk JA, Hanauer A (1991) Oto-palato-digital syndrome type 1: further evidence for assignment of the locus to Xq28. Hum Genet 88:228-230
3. Blanchet P, Lefort G, Eglin MC, Rieu D, Sarda P (1993) Multiple congenital anomalies associated with an otopalato-digital syndrome type II. Genet Couns 4:289-294
4. Brewster TG, Lachman RS, Kushner DC, Holmes LB, Isler RJ, Rimoin DL (1985) Oto-palato-digital syndrome, type II - an X-linked skeletal dysplasia. Med Genet 20:249-254
5. Donnenfeld AE, Conard KA, Roberts NS, Borns PF, Zackai EH (1987) Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome. Am J Med Genet 27:159-173
6. Dudding BA, Gorlin RJ, Langer LO (1967) The oto-palatodigital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized one dysplasia. Am J Dis Child 113:214-221
7. Fitch N, Jequier S, Papageorgiou A (1976) A familial syndrome of cranial, facial, oral and limb anomalies. Clin Genet 10:226-231
8. Fitch N, Jequier S, Gorlin R (1983) The otopalatodigital syndrome, proposed type II. Am J Med Genet 15:655-664
9. Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham A, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR Wealsh CA (1998) Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heteropia. Neuron 21:1315-1325
10. Hoar DI, Field LL, Beards F, Hoganson G, Rollnick B, Hoo JJ (1992) Tentative assignment of gene for oto-palato-digital syndrome to distal Xq (Xq26-q28). Am J Med Genet 42:170-172
11. Hoo JJ, Hoar DI, Beards F, Hoganson G, Rollnick B (1991) Tentative assignment of oto-palato-digital syndrome gene to distal Xq (Xq26-q28) (Series). Miami short reports. Advances in gene technology: the molecular biology of human genetic disease. IRL, New York: IRL
12. Horn D, Nitz I, Bollmann R (1995) Oyo-palato-digital syndrome with features of type I and II in brothers. Genet Couns 6:233-240
13. Neou P, Krykanides S, Gioureli E, Bartsocas CS (1996) Melnick-Needles syndrome in a mother and her son. Genet Couns 7:123-129
14. Nishimura G, Horiuchi T, Kim OH, Sasamoto Y (1997) Atypical skeletal changes in otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome. Am J Med Genet 73:132-138
15. Plauchu H, Maisonneuve D, Floret D (1984) Acro-coxo-mesomelic dwarfism: a new variety of autosomal recessive dwarfism. Ann Genet 27:83-87
16. Robertson S, Gunn T, Allen B, Chapman C, Becroft D (1997) Are Melnick-Needles syndrome and otopalatodigital syndrome type II allelic? Observations in four-generation kindred. Am J Med Genet 71:341-347
17. Robertson SP, Twingg SR, Sutherland-Smith AL, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob Rorstavik KH, Quarrell OWJ, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, The OPD-spectrum disorders clinical collaborative group, Wilkie AOM (2003) Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 33:487-491
18. Robertson SP (2005) Filamin A: phenotype diversity. Curr Opin Genet Dev 15:301-307
19. Taybi H (1962) Generalized skeletal dysplasia with multiple anomalies. Am J Roentgenol 88:450-457
20. Verloes A, Lesenfarits S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E (2000) Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome type 1 and 2, and frontometaphyseal dysplasia. Am J Med Genet 90:407-422