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

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: Sept. 26, 2018