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Betegségjelentés · Cardiovascular

Cantú Syndrome

Whole genome sequencing reads the ABCC9 and KCNJ8 genes for changes that make a potassium channel overactive and cause Cantú syndrome, which affects the heart, blood vessels and hair growth.

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A(z) condition ismertetése

A rare condition with excess body hair, distinctive facial features, an enlarged heart and widened blood vessels. It is caused by changes that make a potassium channel overactive, in the ABCC9 or KCNJ8 gene.

Cantú syndrome is a rare condition that is often present from birth. Its best known features are excess hair growth, coarse facial features and an enlarged heart. Many babies have a patent ductus arteriosus that often needs closing, and blood vessels can be wide and twisted. Developmental delays are common, although intellect is typically normal.

The condition is caused by gain-of-function changes in one copy of ABCC9 or KCNJ8. These genes make parts of a potassium channel found in muscle and blood vessel cells, and the changes make the channel overactive. Heart checks are repeated every year, and swelling of the legs may develop in adolescence and needs management.

Cantú syndrome is inherited in an autosomal dominant way. Each child of an affected person has a 50% chance of inheriting the change. Relatives can be checked for heart, blood vessel and spine features, and some medicines are avoided. Genetic counselling and parental testing help clarify the risk for the family.

A vizsgált betegség

Autoszomális domináns

Caused by gain-of-function changes in one copy of ABCC9 or KCNJ8, which together form a potassium channel (KATP channel) in muscle and blood vessel cells. Each child of an affected person has a 50% chance of inheriting the change.

Tünetek és jelek

Excess hair growth from birth, coarse facial features and a large head are typical. Heart features include an enlarged heart, a patent ductus arteriosus that often needs closing, and fluid around the heart; blood vessels can be wide and twisted. Developmental delay is common, though intellect is typically normal. Lymphoedema, skeletal differences and frequent infections can also occur.

Mit változtat a diagnózis

Regular heart and blood vessel checks, with closure of a patent ductus arteriosus when needed and attention to fluid around the heart. Genetic counselling and parental testing help clarify recurrence risk.

Vizsgált gének

Más néven

Cantu syndrome; Craniofaciocardioskeletal syndrome; hypertrichotic osteochondrodysplasia; hypertrichotic osteochondrodysplasia (Cantu syndrome)

MONDO:0009406OMIM 239850Orphanet 1517MedGen 208647Források: [1][2]

Miért a teljes genom szekvenálás

Cantú syndrome can be caused by changes in either of two genes, and the heart and blood vessel checks are the same either way.

Two genes in one test

Changes in either ABCC9 or KCNJ8 can cause Cantú syndrome. Whole genome sequencing reads both genes in the same test rather than one after the other. A specific result helps the care team plan the right monitoring.

Heart monitoring and medicines to avoid

An echocardiogram is recommended every year to check heart size, function and fluid around the heart. Minoxidil, diazoxide and ACE inhibitors are medicines that people with the condition should avoid. Each child of an affected person has a 50% chance of inheriting the change.

Hivatkozások

  1. Grange DK, Nichols CG, Singh GK, Guilliams K, Aggarwal M, 2014. Cantú Syndrome. GeneReviews
  2. Cantú syndrome. MedlinePlus Genetics

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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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