RGD Reference Report - Mutation of HOXA13 in hand-foot-genital syndrome. - Rat Genome Database

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Mutation of HOXA13 in hand-foot-genital syndrome.

Authors: Mortlock, DP  Innis, JW 
Citation: Mortlock DP and Innis JW, Nat Genet. 1997 Feb;15(2):179-80.
RGD ID: 1599526
Pubmed: PMID:9020844   (View Abstract at PubMed)
DOI: DOI:10.1038/ng0297-179   (Journal Full-text)

There are several human syndromes which involve defects of the limbs and the Mullerian ducts or its derivatives. The hand-foot-genital (HFG) syndrome is an autosomal dominant, fully penetrant disorder that was originally described by Stern et al. Additional reports describing other affected families have also been published. Limb anomalies include short first metacarpals of normal thickness, small distal phalanges of the thumbs, short middle phalanges of the fifth fingers, and fusion or delayed ossification of wrist bones. In the feet, the great toe is shorter due to a short first metatarsal and a small, pointed distal phalanx. Uterine anomalies are common in females with HFG, and typically involve a partially divided (bicornuate) or completely divided (didelphic) uterus, representing defects of Mullerian duct fusion. Urinary tract malformations in affected HFG females include a displaced urethral opening and malposition of ureteral orifices in the bladder wall; affected males may have hypospadias (ventrally misplaced urethral opening) of variable severity. We report the identification of a HOXA13 nonsense mutation in a family with hand-foot-genital syndrome. The mutation converts a highly conserved tryptophan residue in the homeodomain to a stop codon, which truncates 20 amino acids from the protein and likely eliminates or greatly reduces the ability of the protein to bind to DNA.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Congenital Hand Deformities  IAGP 1599526hand-foot-genital syndrome more ...RGD 
hand-foot-genital syndrome  IAGP 1599526hand-foot-genital syndrome more ...RGD 
hand-foot-genital syndrome  ISOHOXA13 (Homo sapiens)1599526; 1599526hand-foot-genital syndrome and OMIM:140000RGD 
Urogenital Abnormalities  IAGP 1599526hand-foot-genital syndrome more ...RGD 
Urogenital Abnormalities  ISOHOXA13 (Homo sapiens)1599526; 1599526hand-foot-genital syndrome and OMIM:140000RGD 

Objects Annotated

Genes (Rattus norvegicus)
Hoxa13  (homeo box A13)

Genes (Mus musculus)
Hoxa13  (homeobox A13)

Genes (Homo sapiens)
HOXA13  (homeobox A13)


Additional Information