Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Homeobox protein Hox-D13

The HOXD13 gene encodes a transcription factor of the homeobox type. Mutations are observed in various autosomal dominant malformations of feet and hands.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Brachydactyly-syndactyly
HOXD13
Brachydactyly type D
HOXD13
Brachydactyly type E1
HOXD13
Syndactyly type 5
HOXD13
Synpolydactyly type 1
HOXD13

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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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6.

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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7.

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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8.

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

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9.

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

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10.

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

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11.

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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12.

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

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13.

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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14.

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

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15.

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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16.

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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17.

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

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18.

Brison N et al. (2014) Joining the fingers: a HOXD13 Story.

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19.

Shi X et al. (2013) A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning.

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20.

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

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21.

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

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22.

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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23.

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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24.

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

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25.

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

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26.

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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27.

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

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28.

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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29.

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

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30.

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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31.

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

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32.

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

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33.

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

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34.

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

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35.

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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36.

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

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37.

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

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38.

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

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39.

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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40.

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

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41.

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

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42.

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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43.

Orphanet article

Orphanet ID 122466 [^]
44.

NCBI article

NCBI 3239 [^]
45.

OMIM.ORG article

Omim 142989 [^]
46.

Wikipedia article

Wikipedia EN (HOXD13) [^]
Update: April 29, 2019