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Zpráva o onemocněních · Neurological

Poirier-Bienvenu Neurodevelopmental Syndrome

Whole genome sequencing reads the CSNK2B gene for changes that cause Poirier-Bienvenu neurodevelopmental syndrome, a condition in which epilepsy usually begins in infancy alongside developmental delay.

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 neurodevelopmental condition causing epilepsy that usually begins in infancy, along with developmental delay and variable intellectual disability. It is caused by changes in one copy of the CSNK2B gene.

Poirier-Bienvenu neurodevelopmental syndrome is a condition that causes epilepsy, usually starting in the first year or two of life, along with developmental delay and variable intellectual disability. Speech and motor development are often delayed, and the seizures vary in type and severity. Seizure treatment works well for many people, although some have severe epilepsy that is harder to control.

The condition is caused by changes in one copy of the CSNK2B gene. CSNK2B makes the regulatory part of protein kinase CK2, an enzyme with many roles in brain cells. Almost all changes arise new, and affected children rarely have an affected parent. Some people also have short stature or finger and toe differences.

Care is focused on supportive treatment. Seizure treatment, developmental, speech and educational support, and regular review with a multidisciplinary team help improve quality of life and function. Genetic counselling and parental testing help clarify the risk to relatives and to future pregnancies.

Onemocnění, které analyzujeme

Autozomálně dominantní

Caused by changes in one copy of the CSNK2B gene, which makes the regulatory part of protein kinase CK2, an enzyme with many roles in brain cells. Most changes arise de novo.

Příznaky a projevy

Seizures usually begin in the first year or two of life and vary in type and severity. Developmental delay and intellectual disability range from mild to severe, with speech and motor delay, and sometimes low muscle tone in infancy. Short stature is also seen, and some people have finger or toe differences.

Co se diagnózou změní

Seizure treatment, which is effective for many, and developmental, speech and educational support. Most cases arise de novo, but genetic counselling and parental testing help clarify recurrence risk.

Analyzované geny

Známé také jako

POBINDS

MONDO:0032889OMIM 618732Orphanet 689397MedGen 1684718Zdroje: [1][2][3]

Proč sekvenování celého genomu

Almost all CSNK2B changes arise new, so the risk to siblings depends on whether a parent carries the change. Whole genome sequencing reads CSNK2B in one test.

Risk to siblings depends on parental status

Almost all people with this condition whose parents were tested have a new change. When a parent does carry the change, the risk to each child is 1 in 2, so parental testing is offered.

Seizure care is central

Seizures usually begin in the first year or two of life, and treatment is effective for many people. Development is supported with speech, motor and educational therapies, and regular multidisciplinary review.

Reference

  1. Lippa N, Mulhern M, Ernst Florido M, Earley C, Sands TT, 2024. CSNK2B-Related Neurodevelopmental Disorder. GeneReviews
  2. Ernst ME, Baugh EH, Thomas A, Bier L, Lippa N, Stong N et al., 2021. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia
  3. Yang Q, Zhang Q, Yi S, Qin Z, Shen F, Ou S et al., 2022. De Novo CSNK2B Mutations in Five Cases of Poirier-Bienvenu Neurodevelopmental Syndrome. Frontiers in neurology

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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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