Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: A case report

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Jamsheer, Aleksander ^a,b,c,d   Sowińska, Anna ^a,b,c,d   Kaczmarek, Leszek ^a,e   Latos Bieleńska, Anna ^a,b,c,d  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b NZOZ Center for Medical Genetics ^*  (Poland)

^c NZOZ Center for Medical Genetics   (Poland)

^d NONE   (Poland)

^e NONE   (Poland)

Author keywords

Bde; Brachydactyly type e; Hoxd13; Isolated brachydactyly; Nonsense mutation

Indexed keywords

ADULT; ARTICLE; BINDING AFFINITY; BRACHYDACTYLY; BRACHYDACTYLY TYPE E; CASE REPORT; CHILD; CLINODACTYLY; DNA BINDING; FEMALE; GENE; HETEROZYGOSITY; HOXD13 GENE; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; SCHOOL CHILD; GENETICS; STOP CODON;

HOMEODOMAIN PROTEIN; HOXD13 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; BRACHYDACTYLY; CHILD; CODON, NONSENSE; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MALE; TRANSCRIPTION FACTORS;

EID: 84855483049     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-4     Document Type: Article

References (22)

1. Schwabe GC, Mundlos S. Genetics of congenital hand anomalies. Handchir Mikrochir Plast Chir 2004, 36(2-3):85-97.
2. Johnson D, Kan S, Oldridge M, Trembath RC, Roche P, Esnouf RM, Giele H, Wilkie AOM. Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet 2003, 72:984-997. 10.1086/374721, 1180360, 12649808.
3. Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR. Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. J Med Genet 2002, 39:852-856. 10.1136/jmg.39.11.852, 1735011, 12414828.
4. Muragaki Y, Mundlos S, Upton J, Olsen BR. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 1996, 272(5261):548-551. 10.1126/science.272.5261.548, 8614804.
5. Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc Natl Acad Sci 1997, 94(14):7458-7463. 10.1073/pnas.94.14.7458, 23843, 9207113.
6. Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WHY, Jabs EW, Amzel LM, Shan X, Zhang X. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. Am J Hum Genet 2007, 80(2):361-371. 10.1086/511387, 1785357, 17236141.
7. Krumlauf R. Hox genes in vertebrate development. Cell 1994, 78:191-201. 10.1016/0092-8674(94)90290-9, 7913880.
8. Zakany J, Duboule D. The role of Hox genes during vertebrate limb development. Curr Opin Genet Dev 2007, 17(4):359-66. 10.1016/j.gde.2007.05.011, 17644373.
9. Klopocki E, Hennig BP, Dathe K, Koll R, de Ravel T, Baten E, Blom E, Gillerot Y, Weigel JF, Kruger G, Hiort O, Seemann P, Mundlos S. Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet 2010, 86(3):434-439. 10.1016/j.ajhg.2010.01.023, 2833367, 20170896.
10. Brison N, Tylzanowski P, Debeer P. Limb skeletal malformations-What the HOX is going on?. Eur J Med Genet 2011, doi:10.1016/j.ejmg.2011.06.003.
11. Furniss D, Kan SH, Taylor IB, Johnson D, Critchley PS, Giele HP, Wilkie AO. Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery. J Med Genet 2009, 46(11):730-735. 10.1136/jmg.2009.066027, 2764122, 19429598.
12. Nakano K, Sakai N, Yamazaki Y, Watanabe H, Yamada N, Sezaki K, Susami T, Tokunaga K, Takato T, Uchinuma E. Novel mutations of the HOXD13 gene in hand and foot malformations. Int Surg 2007, 92(5):287-295.
13. Fantini S, Vaccari G, Brison N, Debeer P, Tylzanowski P, Zappavigna V. A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype. Hum Mol Genet 2009, 18(5):847-860.
14. Wajid M, Ishii Y, Kurban M, Dua-Awereh MB, Shimomura Y, Christiano AM. Polyalanine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly. Clin Genet 2009, 76(3):300-302. 10.1111/j.1399-0004.2009.01213.x, 19686284.
15. Gong L, Wang B, Wang J, Yu H, Ma X, Yang J. Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly. Eur J Med Genet 2011, 54(2):108-111. 10.1016/j.ejmg.2010.10.007, 20974300.
16. Goodman FR, Giovannucci-Uzielli ML, Hall C, Reardon W, Winter R, Scambler P. Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. Am J Hum Genet 1998, 63(4):992-1000. 10.1086/302070, 1377502, 9758628.
17. Kan S, Johnson D, Giele H, Wilkie AOM. An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations. Am J Med Genet 2003, 121A:69-74. 10.1002/ajmg.a.20103, 12900906.
18. Lahiri DK, Bye S, Nurnberger JI, Hodes ME, Crisp M. A non-organic and non-enzymatic extraction method gives higher yields of genomic DNA from whole-blood samples than do nine other methods tested. J Biochem Biophys Methods 1992, 25(4):193-205. 10.1016/0165-022X(92)90014-2, 1494032.
19. Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ. Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Am J Hum Genet 2000, 67(1):197-202. 10.1086/302961, 1287077, 10839976.
20. Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE. A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. Hum Mutat 2002, 19(5):573-574.
21. Kuss P, Villavicencio-Lorini P, Witte F, Klose J, Albrecht AN, Seemann P, Hecht J, Mundlos S. Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis. J Clin Invest 2009, 19(1):146-156.
22. Huang W, Chung UI, Kronenberg HM, de Crombrugghe B. The chondrogenic transcription factor Sox9 is a target of signaling by the parathyroid hormone-related peptide in the growth plate of endochondral bones. Proc Natl Acad Sci 2001, 98(1):160-165. 10.1073/pnas.011393998, 14561, 11120880.