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Betegségjelentés · Musculoskeletal

Hand-Foot-Genital Syndrome (HOXA13)

Whole genome sequencing reads the HOXA13 gene for the changes that cause hand-foot-genital syndrome, which affects the thumbs, big toes and the urinary and genital tract.

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A(z) condition ismertetése

An inherited condition causing short thumbs and big toes together with differences of the urinary tract and genitals. It is caused by changes in one copy of the HOXA13 gene.

Hand-foot-genital syndrome is a rare inherited condition that affects the hands and feet, the urinary tract and the reproductive system. The most common sign is short thumbs and big toes, which can affect dexterity. Women may have a double or divided uterus, and men may have hypospadias, where the urethral opening sits on the underside of the penis.

The condition is caused by changes in one copy of HOXA13, a gene that guides the development of the ends of the limbs and the lower urinary and genital tract. Around 50% to 60% of changes are expansions of a repeated stretch within the protein. Some cases involve changes in GC-rich regions that some sequencing methods can miss, so a negative result does not rule out the condition.

It is inherited in an autosomal dominant way, so each child of an affected person has a 50% chance of inheriting the change. Severity varies within families. Care includes imaging of the kidneys and urinary tract, gynaecological assessment for women before pregnancy, and urological review for men, with antibiotics or surgery used to prevent urinary infections when needed.

A vizsgált betegség

Autoszomális domináns

Caused by changes in one copy of HOXA13, a gene that patterns the ends of the limbs and the lower urinary and genital tract during development. It can be inherited from a parent, with variable severity within families.

Tünetek és jelek

Short thumbs and big toes, small or curved fifth fingers and fused small bones of the wrists and ankles are typical. Women may have a double or divided uterus, and men may have hypospadias. Less often, narrowing or misplacement of the ureters leads to urine reflux and urinary infections.

Mit változtat a diagnózis

Imaging of the kidneys and urinary tract, gynaecological assessment for women, especially before pregnancy, and urological review for men. Genetic counselling covers the 50% chance of passing the change on.

Vizsgált gének

Más néven

hand foot uterus syndrome; HFG; HFG syndrome; HFU syndrome

MONDO:0007698OMIM 140000Orphanet 2438MedGen 331103Források: [1][3][2]

Miért a teljes genom szekvenálás

Hand-foot-genital syndrome is dominant, so each child of an affected parent has a 50% chance of inheriting the change, and severity varies.

Kidney and urinary checks

Narrowing or misplacement of the ureters can lead to urine reflux and infections, so imaging of the kidneys and urinary tract is part of the assessment. Follow-up with a urologist is advised when reflux or urinary infections are found.

Testing once the change is known

Once the HOXA13 change in a family is identified, prenatal testing and preimplantation genetic testing are possible. A negative result does not rule out the condition, because some changes are expansions or lie in GC-rich regions that some sequencing methods can miss.

Korlátok

  • Some cases are caused by expansions of a repetitive polyalanine-coding stretch within HOXA13, or by changes in GC-rich regions of the gene that can be missed by some sequencing methods. A negative result therefore does not rule out the condition.

Hivatkozások

  1. Innis JW, 2006. Hand-Foot-Genital Syndrome. GeneReviews
  2. Hand-foot-genital syndrome. MedlinePlus Genetics
  3. Mortlock DP, Innis JW, 1997. Mutation of HOXA13 in hand-foot-genital syndrome. Nature genetics

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Egy teszt. Egy életen át tartó válaszok.

Egy csomag, házhoz szállítva. Az egész genomját a diagnosztikai döntésekhez használt klinikai színvonalon szekvenáljuk. Orvos számára is használható jelentéseit 6–8 héten belül küldjük el a Genome Manager-be. Ezek tartósan érvényesek, és a tudomány fejlődésével frissülnek.

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