A novel subtype of distal symphalangism affecting only the 4th finger

American Journal of Medical Genetics, Part A

Volumn 149, Issue 7, 2009, Pages 1571-1573

  Kjaer, Klaus W ^a,e   Tiner, Mehmet ^b   Cingoz, Sultan ^a,c   Karatosun, Vasfi ^b   Tommerup, Niels ^a   Mundlos, Stefan ^d   Gunal, Izge ^b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b DOKUZ EYLUL UNIVERSITY   (Turkey)

^c Eylul University   (Turkey)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; DISTAL SYMPHALANGISM; FINGER MALFORMATION; GENE MAPPING; GENE MUTATION; HAND MALFORMATION; HUMAN; INTERPHALANGEAL JOINT; LETTER; METACARPOPHALANGEAL JOINT; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; FINGER PHALANGES; FINGERS; HUMANS; MALE; PEDIGREE; RECEPTORS, CELL SURFACE;

EID: 67649891494     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32905     Document Type: Letter

References (7)

1. Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML. 1999. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet 21:302-304. (Pubitemid 29124939)
2. Lehman K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S. 2007. A new type of brachydactyly type B caused by point mutations in the BMP antagonist NOGGIN. Am J Hum Genet 81:388-396.
3. Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO. 2000. Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. Nat Genet 24:275-278. (Pubitemid 30132197)
4. Poznanski AK. 1984. The hand in radiologic diagnosis. With gamuts and pattern profiles. Philadelphia, PA: W.B. Saunders Company. pp 46-54. ISBN 0-7216-1324-1.
5. Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen- Kaesbach G, Oldridge M, Wilkie AO, Komec R, Mundlos S. 2000. Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Am J Hum Genet 67:822-831. (Pubitemid 30740135)
6. Schwabe GC, Turkmen S, Leschik G, Palanduz S, Stover B, Goecke TO, Mundlos S. 2004. Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. Am J Med Genet Part A 124A: 356-363. (Pubitemid 38141376)
7. Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Ploger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S. 2005. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest 115:2373-2381. (Pubitemid 41266199)