Genomic coordinate 7:27,194,364.
Here I present: “Hand-foot-genital Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (HFG) 手足外腸綜合徵。icd10=Q51.2
INTRODUCTION.
Hand-foot-genital syndrome (HFG) is an autosomal dominant condition characterized by distal limb and distal genitourinary tract malformations. The most striking limb abnormality is first-digit hypoplasia, comprising short, proximally placed thumbs with hypoplastic thenar eminences and short, medially deviated halluces. There is also ulnar deviation of the second fingers, clinodactyly/brachydactyly of the fifth fingers, brachydactyly of the second to fifth toes, and delayed ossification, fusion, and shortening of the carpals and tarsals. These abnormalities appear to be fully penetrant, bilateral, and symmetrical, with little variation in severity. In contrast, genitourinary tract abnormalities are incompletely penetrant and variably severe, and include hypospadias in males, Mullerian duct fusion defects in females, vesicoureteric reflux, and pelviureteric junction obstruction.
Hand-foot-genital syndrome (HFG) is characterized by limb malformations and urogenital defects. Mild bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital abnormalities include abnormalities of the ureters and urethra and various degrees of incomplete Mullerian fusion in females and hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis are common; fertility is normal.
There is evidence that hand-foot-genital syndrome (HFG) is caused by heterozygous mutation in the homeobox-A13 (HOXA13) gene on cytogenetic location 7p15.2 and genomic coordinates 7:27,194,364-27,200,091. The screenshot of HOXA13 gene 5,728 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides HOXA13 in the 7p15.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:27,169,480 | MIR196B | Micro RNA 196B |
| 7:27,170,605 | HOXA10 | Homeobox A10 |
| 7:27,181,157 | HOXA11 | Homeobox A11 |
| 7:27,185,408 | HOXA11AS | Homeobox A11, antisense |
| 7:27,194,364 | HOXA13 | Homeobox A13 |
| 7:27,200,421 | HOTTIP | HOXA distal transcript antisense RNA |
| 7:27,242,802 | EVX1 | Even-skipped homeobox 1 |
| 7:27,525,442 | HIBADH | 3-hydroxyisobutyrate dehydrogenase |
| 7:27,739,373 | TAX1BP1 | TAX1-binding protein 1 |
| 7:27,830,577 | JAZF1 | JAZF zinc finger 1 |
