Mutation of HOXA13 in hand-foot-genital syndrome

  title={Mutation of HOXA13 in hand-foot-genital syndrome},
  author={Douglas P. Mortlock and Jeffrey W. Innis},
  journal={Nature Genetics},
There are several human syndromes which involve defects of the limbs and the Müllerian 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… 
A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome
Hypospadias, when the urethral opening is located on the ventral side of the penis, is one of the most common congenital malformations with an incidence of 3 per 1000 males and was initially called hand-foot-uterus syndrome by Stern et al but the observation of hypos padias in some affected males prompted the change of nomenclature.
Severe manifestations of hand‐foot‐genital syndrome associated with a novel HOXA13 mutation
The phenotype in the present patient was defined as the severe end of hand‐foot‐genital and Guttmacher syndrome spectrum, which expands the clinical spectrum caused by heterozygous HOXA13 mutations and reinforces the difficulty of differential diagnosis on clinical grounds for the disorders with short distal phalanges, short thumbs, and short halluces.
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
Hand-foot-genital syndrome (HFGS) is a rare, dominantly inherited condition affecting the distal limbs and genitourinary tract. A nonsense mutation in the homeobox of HOXA13 has been identified in
Hand-Foot-Genital Syndrome
The limb abnormalities are reported to be fully penetrant, bilateral, and symmetrical, whereas the genitourinary abnormalities are incompletely penetrant and variably severe.
Multifaceted Hoxa13 function in urogenital development underlies the Hand-Foot-Genital Syndrome.
It is shown that mouse fetuses lacking Hoxa13 function develop megaureters, hydronephrosis and malformations of the uterus, reminiscent of the defects characterizing patients with Hand-Foot-Genital syndrome, and evidence is provided that HoxA13 provides positional and temporal cues during the development of the lower urogenital system, a sine qua non condition for the proper function of the urinary system.
Limb skeletal malformations - what the HOX is going on?
Joining the fingers: A HOXD13 story
The existing animal models that are currently used to study HOXD13 (mal)function are instrumental in unraveling potential genotype‐phenotype correlations and both mouse‐ and chick‐based approaches allow the in vivo study of the pathogenic mechanism by which HOXDs cause SPD phenotypes as well as help in identifying the transcriptional targets.
Dual genetic diagnoses: Atypical hand‐foot‐genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1
A male patient with dual genetic diagnoses of atypical hand‐foot‐genital syndrome (HFGS) and developmental delay is described, thought to explain his developmental delay via a separate genetic mechanism.
Limb Malformations
About Limb Malformations Limb malformations are present in isolated limb reduction defects and split hand/foot anomalies as well as some syndromic forms, such as the Cornelia de Lange syndrome caused
A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.
DNA was isolated from 36 members of a single upstate (northern) New York white family of Italian descent in which both CVT and CMT were segregating and a single missense mutation, M319K (956T-->A), in the HOXD10 gene was detected.


Update on a family with hand-foot-genital syndrome: hypospadias and urinary tract abnormalities in two boys from the fourth generation.
The findings of bilateral vesicoureteral reflux in one boy and bilateral ureteropelvic junction obstruction in his cousin represent the first reports of urinary tract abnormalities in males with hand-foot-genital syndrome.
A community of human malformation syndromes involving the Müllerian ducts, distal extremities, urinary tract, and ears.
A community of six syndromes, four of them apparently rare, is proposed; all share uterovaginal malformation, but neither this type nor any other single type of malformation is essential for a syndrome to merit membership in the community.
A new syndrome of severe upper limb hypoplasia and Müllerian duct anomalies.
  • F. Halal
  • Medicine
    American journal of medical genetics
  • 1986
A new syndrome of upper limb hypoplasia and Müllerian duct anomalies in a French Canadian family appears to be inherited as an autosomal dominant trait.
The molecular basis of hypodactyly (Hd): a deletion in Hoxa13 leads to arrest of digital arch formation
The results confirm the critical role of AbdB–like Hox genes in the development of the autopod, and add to the spectrum of mutations involving triplet repeats.
Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13
It is demonstrated that synpolydactyly, an inherited human abnormality of the hands and feet, is caused by expansions of a polyalanine stretch in the amino-terminal region of HOXD13.
Radiographic findings in the hand-foot-uterus syndrome (HFUS).
The hand-foot-uterus syndrome is a hereditary disorder with abnormalities involving the hands and feet. Females with the disorder have duplications of the genital tract. Radiologically, the
Embryological observations on the female genital tract.
The hypothesis is advanced that the vagina is an organ embryologically derived from the mesonephric or Wolffian ducts in addition to the Müllerian tubercle, and a new embryological classification of female genital malformations is proposed.
The hand-foot-genital (hand-foot-uterus) syndrome: family report and update.
  • F. Halal
  • Medicine, Psychology
    American journal of medical genetics
  • 1988
Four individuals from three generations of a family had the Hand-Foot-Genital (Hand-Foot-Uterus) syndrome. Affected females had urologic abnormalities confirming that the latter are part of the