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Zpráva o onemocněních · Neurological

Warsaw Breakage Syndrome

Whole genome sequencing reads the DDX11 gene for inherited changes that cause Warsaw breakage syndrome, a condition with growth restriction, a small head, hearing loss and chromosomes that break more easily.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

A rare inherited condition with growth restriction, a small head size, intellectual disability and hearing loss, in which chromosomes break more easily. It is caused by changes in both copies of the DDX11 gene.

Warsaw breakage syndrome is a rare inherited condition in which growth is restricted from before birth and the head is small. Hearing loss caused by differences in the inner ear is common, and speech delay is often severe. Intellectual disability is typically in the mild to moderate range, and some people have heart, skeletal or limb differences.

The condition is caused by changes in both copies of the DDX11 gene. DDX11 makes an enzyme called ChlR1, a helicase that helps unwind DNA for copying and keeps the two copies of each chromosome together until they separate. Cells from some affected people show increased chromosome breakage when tested in the laboratory.

Care includes hearing assessment and support, such as hearing aids, cochlear implants or communication and hearing habilitation, along with growth monitoring and developmental support. Heart and limb differences are treated by the relevant specialists. The condition is inherited in a recessive way, and carrier testing is available for relatives.

Onemocnění, které analyzujeme

Autozomálně recesivní

Caused by changes in both copies of the DDX11 gene, a DNA helicase that helps hold copied chromosomes together (sister chromatid cohesion). Cells show increased chromosome breakage.

Příznaky a projevy

Growth restriction before and after birth, a small head size and mild to severe intellectual disability are typical. Sensorineural hearing loss, often with inner ear malformations, is common. Less often there are skin pigmentation changes, facial differences and skeletal or limb anomalies.

Co se diagnózou změní

Care includes hearing assessment and support, such as hearing aids or cochlear implants, along with growth monitoring and developmental support. Genetic counselling is recommended, and carrier testing is available for relatives.

Analyzované geny

Známé také jako

WABS

MONDO:0013252OMIM 613398Orphanet 280558MedGen 462008Zdroje: [1][2][3]

Proč sekvenování celého genomu

Warsaw breakage syndrome is inherited in a recessive way, so the genetic result can guide advice for relatives. Whole genome sequencing reads the DDX11 gene in one test.

Recessive inheritance and future pregnancies

If both parents carry a DDX11 change, each child has a 1 in 4 chance of being affected and a 1 in 2 chance of being a carrier. Carrier testing for relatives, and prenatal or preimplantation testing, are possible once the family's changes are known.

Hearing support is central to care

Hearing loss is common in this condition, and treatments include hearing aids, cochlear implants and communication and hearing habilitation. Growth and speech development are also monitored at each visit.

Reference

  1. Alkhunaizi E, Brosh RM, Chitayat D, 2019. DDX11-Related Cohesinopathy. GeneReviews
  2. Warsaw breakage syndrome. MedlinePlus Genetics
  3. Santos D, Mahtab M, Boavida A, Pisani FM, 2021. Role of the DDX11 DNA Helicase in Warsaw Breakage Syndrome Etiology. International journal of molecular sciences

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Jeden test. Odpovědi na celý život.

Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

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