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Mutation of HOXA13 in hand-foot-genital syndrome
- Source :
- Nature genetics. 15(2)
- Publication Year :
- 1997
-
Abstract
- There are several human syndromes which involve defects of the limbs and the Mullerian ducts or its derivatives1–3. The hand-foot-genital (HFG) syndrome is an autosomal dominant, fully penetrant disorder that was originally described by Stern et al.4 Additional reports describing other affected families have also been published1,5–11. 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 severity1,5,7–9. 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.
- Subjects :
- Male
Foot Deformities, Congenital
Mullerian Ducts
Nonsense mutation
DNA Mutational Analysis
Molecular Sequence Data
Biology
Structure-Activity Relationship
Urethra
Genetics
medicine
Humans
Point Mutation
Abnormalities, Multiple
Hand-Foot-Genital Syndrome
Amino Acid Sequence
Codon
Homeodomain Proteins
Hypospadias
Uterus
Anatomy
DNA
Syndrome
Phalanx
medicine.disease
Synpolydactyly
Pedigree
Protein Structure, Tertiary
medicine.anatomical_structure
HOXD13
Female
Hand Deformities, Congenital
Protein Binding
Subjects
Details
- ISSN :
- 10614036
- Volume :
- 15
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Nature genetics
- Accession number :
- edsair.doi.dedup.....fdafc6dc2b47da45dcfe7f4a39ad87e7