Polyalamine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly

Clinical Genetics

Volumn 76, Issue 3, 2009, Pages 300-302

  Wajid, M ^a   Ishii, Y ^a   Kurban, M ^a   Dua Awereh, M B ^a   Shimomura, Y ^a   Christiano, A M ^a,b  

^a Departments of Dermatology   (United States)

^b Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; HOX PROTEIN; HOXD13 PROTEIN; UNCLASSIFIED DRUG; HOMEODOMAIN PROTEIN; HOXD13 PROTEIN, HUMAN; PEPTIDE; POLYALANINE; TRANSCRIPTION FACTOR;

AUTOSOMAL DOMINANT INHERITANCE; BRACHYDACTYLY; CHROMOSOME 2Q; CONTRACTURE; FINGER MALFORMATION; GENE DUPLICATION; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LETTER; NUCLEOTIDE REPEAT; PAKISTAN; PEDIGREE ANALYSIS; POLYDACTYLY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYNDACTYLY; FAMILY; FEMALE; GENETICS; MALE; MUTATION; PEDIGREE; TRINUCLEOTIDE REPEAT;

FAMILY; FEMALE; HAPLOTYPES; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; PAKISTAN; PEDIGREE; PEPTIDES; POLYDACTYLY; SYNDACTYLY; TRANSCRIPTION FACTORS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 70350140176     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01213.x     Document Type: Letter

References (13)

1. Malik S, Grzeschik KH. Synpolydactyly: clinical and molecular advances. Clin Genet 2008, 73(2):113-120.
2. Albrecht AN, Kornak U, Böddrich A. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum Mol Genet 2004, 13(20):2351-2359.
3. Te Welscher P, Zuniga A, Fernandez-Teran M. Patterning the limb before and after SHH. J Anat 2002, 201:417.
4. Krumlauf R. Hox genes in vertebrate development. Cell 1994, 78:191-201.
5. Capellini TD, Di Giacomo G, Salsi V. Pbx1/Pbx2 requirement for distal limb patterning is mediated by the hierarchical control of Hox gene spatial distribution and Shh expression. Development 2006, 133:2263-2273.
6. Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M. Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum Mol Genet 1996, 5(7):945-952.
7. Deschamps J. Developmental biology. Hox genes in the limb: a play in two acts. Science 2004, 304(5677):1610-1611.
8. 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.
9. Albrecht AN, Kornak U, Böddrich A. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum Mol Genet 2004, 13(20):2351-2359.
10. Graba Y, Aragnol D, Pradel J. Drosophila Hox complex downstream targets and the function of homeotic genes. Bioessays 1997, 19:379-388.
11. Brown LY, Brown SA. Alanine tracts: the expanding story of human illness and trinucleotide repeats. Trends Genet 2004, 20(1):51-58.
12. Goodman FR, Mundlos S, Muragaki Y. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc Natl Acad Sci U S A 1997, 94(14):7458-7463.
13. Horsnell K, Ali M, Malik S. Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion. Eur J Med Genet 2006, 49(5):396-401.