Homeobox-Protein Hox-D13
Das HOXD13-Gen kodiert einen Transkriptionsfaktor vom Homeobox-Typ. Mutationen werden bei verschiedenen autosomal dominanten Malformationen von Füßen und Händen gesehen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Albrecht AN et al. (2004) A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.
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2. |
Davis AP et al. (1996) A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse.
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3. |
None (1997) Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13.
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4. |
Goodman FR et al. (1997) Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.
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5. |
Johnson KR et al. (1998) A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly.
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6. |
Zákány J et al. (1999) Hox genes and the making of sphincters.
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7. |
Bruneau S et al. (2001) The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes.
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8. |
Kmita M et al. (2002) Serial deletions and duplications suggest a mechanism for the collinearity of Hoxd genes in limbs.
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9. |
Caronia G et al. (2003) An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function.
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10. |
Brown LY et al. (2004) Alanine tracts: the expanding story of human illness and trinucleotide repeats.
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11. |
Zákány J et al. (2004) A dual role for Hox genes in limb anterior-posterior asymmetry.
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12. |
Zhao X et al. (2007) Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
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13. |
Albrecht A et al. (2005) The other trinucleotide repeat: polyalanine expansion disorders.
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14. |
Salsi V et al. (2006) Hoxd13 and Hoxa13 directly control the expression of the EphA7 Ephrin tyrosine kinase receptor in developing limbs.
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15. |
Tarchini B et al. (2006) Regulatory constraints in the evolution of the tetrapod limb anterior-posterior polarity.
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16. |
Nakano K et al. () Novel mutations of the HOXD13 gene in hand and foot malformations.
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17. |
Garcia-Barceló MM et al. (2008) Identification of a HOXD13 mutation in a VACTERL patient.
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18. |
Kuss P et al. (2009) Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis.
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19. |
Montavon T et al. (2011) A regulatory archipelago controls Hox genes transcription in digits.
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20. |
Sheth R et al. (2012) Hox genes regulate digit patterning by controlling the wavelength of a Turing-type mechanism.
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21. |
Kuss P et al. (2014) Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A.
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22. |
None (1992) The vertebrate limb: a model system to study the Hox/HOM gene network during development and evolution.
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23. |
Johnson RL et al. (1997) Molecular models for vertebrate limb development.
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24. |
Ibrahim DM et al. (2013) Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.
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25. |
Johnson D et al. (2003) Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
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26. |
Oude Luttikhuis ME et al. (1996) Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13.
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27. |
Kjaer KW et al. (2005) A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.
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28. |
Sayli BS et al. (1995) A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.
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29. |
Muragaki Y et al. (1996) Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.
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30. |
Akarsu AN et al. (1996) Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.
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31. |
Goodman F et al. (1998) Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.
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32. |
Debeer P et al. (2002) Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.
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33. |
Kan SH et al. (2003) An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.
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34. |
Fantini S et al. (2009) A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype.
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35. |
Kurban M et al. (2011) A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.
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36. |
Brison N et al. (2012) An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning.
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37. |
Wang B et al. (2012) A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family.
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38. |
Zhou X et al. (2013) A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family.
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39. |
Brison N et al. (2014) Joining the fingers: a HOXD13 Story.
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40. |
Shi X et al. (2013) A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning.
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41. |
Dai L et al. (2014) Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.
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42. |
D'Esposito M et al. (1991) EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2.
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43. |
Orphanet article
Orphanet ID 122466
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44. |
NCBI article
NCBI 3239
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45. |
OMIM.ORG article
Omim 142989
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Update: 14. August 2020