Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Brachydaktylie-Syndaktylie
HOXD13
Brachydaktylie Typ D
HOXD13
Brachydaktylie Typ E1
HOXD13
Syndaktylie Typ 5
HOXD13
Synpolydaktylie Typ 1
HOXD13

Referenzen:

1.

Johnson RL et. al. (1997) Molecular models for vertebrate limb development.

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2.

None (1992) The vertebrate limb: a model system to study the Hox/HOM gene network during development and evolution.

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3.

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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4.

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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5.

Muragaki Y et. al. (1996) Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.

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6.

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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7.

Akarsu AN et. al. (1996) Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.

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8.

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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9.

None (1997) Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13.

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10.

Goodman FR et. al. (1997) Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.

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11.

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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12.

Goodman F et. al. (1998) Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.

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13.

Zákány J et. al. (1999) Hox genes and the making of sphincters.

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14.

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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15.

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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16.

Kmita M et. al. (2002) Serial deletions and duplications suggest a mechanism for the collinearity of Hoxd genes in limbs.

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17.

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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18.

Johnson D et. al. (2003) Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.

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19.

Kan SH et. al. (2003) An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.

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20.

Brown LY et. al. (2004) Alanine tracts: the expanding story of human illness and trinucleotide repeats.

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21.

Zákány J et. al. (2004) A dual role for Hox genes in limb anterior-posterior asymmetry.

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22.

Albrecht AN et. al. (2004) A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.

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23.

Albrecht A et. al. (2005) The other trinucleotide repeat: polyalanine expansion disorders.

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24.

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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25.

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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26.

Tarchini B et. al. (2006) Regulatory constraints in the evolution of the tetrapod limb anterior-posterior polarity.

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27.

Zhao X et. al. (2007) Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.

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28.

Nakano K et. al. () Novel mutations of the HOXD13 gene in hand and foot malformations.

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29.

Garcia-Barceló MM et. al. (2008) Identification of a HOXD13 mutation in a VACTERL patient.

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30.

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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31.

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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32.

Kurban M et. al. (2011) A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.

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33.

Montavon T et. al. (2011) A regulatory archipelago controls Hox genes transcription in digits.

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34.

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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35.

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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36.

Sheth R et. al. (2012) Hox genes regulate digit patterning by controlling the wavelength of a Turing-type mechanism.

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37.

Zhou X et. al. (2013) A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family.

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38.

Ibrahim DM et. al. (2013) Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.

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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.

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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42.

Dai L et. al. (2014) Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.

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Update: 26. September 2018

 

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