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Zpráva o onemocněních · Neurological

GRIA2-Related Neurodevelopmental Disorder

Whole genome sequencing reads the GRIA2 gene for changes that cause a neurodevelopmental disorder with intellectual disability, marked language impairment and, in some children, seizures.

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 disorder causing intellectual disability and language impairment, often with autism or behavioural differences and sometimes seizures. It is caused by new changes in the GRIA2 gene, part of a receptor for the brain chemical glutamate.

GRIA2-related neurodevelopmental disorder causes developmental delay and intellectual disability, with marked difficulties in language. Almost everyone has poor or absent speech, and about half of affected people do not speak. Some children develop normally at first and then lose skills, and autism or other behavioural differences are reported. Nearly half of affected children develop seizures.

The condition is caused by changes in one copy of the GRIA2 gene, which makes the GluA2 part of the AMPA receptor. This receptor is a channel that responds to glutamate, a brain chemical, and carries fast signals between nerve cells. Most changes arise new, and some children have movement problems such as chorea, dystonia or dyskinesia.

Some children also have differences in muscle tone at birth, and several are unable to walk. There is no cure, so care is supportive and aims to improve quality of life and function. This includes speech-language therapy, physiotherapy, occupational and feeding therapy, and treatment of seizures when they occur, with behavioural assessment.

Onemocnění, které analyzujeme

Autozomálně dominantní

Caused by changes in one copy of GRIA2, which encodes the GluA2 subunit of the AMPA glutamate receptor that carries fast signals between nerve cells. Most changes arise de novo.

Příznaky a projevy

Developmental delay and intellectual disability with marked language impairment. Autism and other behavioural or psychiatric differences are reported, and some children have Rett-like features. Nearly half of affected children develop seizures, and some have movement disorders such as chorea, dystonia or dyskinesia.

Co se diagnózou změní

Developmental, speech and educational support with behavioural assessment; seizures are treated when they occur. Most cases arise de novo, but parental testing and genetic counselling guide recurrence risk.

Analyzované geny

Známé také jako

GRIA2-related complex neurodevelopmental disorder; NEDLIB; NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES

MONDO:0030060OMIM 618917MedGen 1708389Zdroje: [1][2]

Proč sekvenování celého genomu

Most GRIA2 changes arise new, so the risk to future pregnancies is presumed to be low, though a small recurrence risk exists. Whole genome sequencing reads GRIA2 in one test.

New changes and a small recurrence risk

Because the affected child most likely has a new GRIA2 change, the risk to future pregnancies is presumed to be low. There is still a recurrence risk of about 1% to siblings because of possible parental germline mosaicism, so prenatal or preimplantation testing may be considered.

Supportive, multidisciplinary care

Care involves neurology, developmental paediatrics, speech and language therapy, ophthalmology and medical genetics, among other specialists. Seizures are treated when they occur, and behavioural assessment is part of follow-up.

Reference

  1. Efthymiou S, Rumbos Siurana E, Salpietro V, Bayat A, Houlden H, 2024. GRIA2-Related Neurodevelopmental Disorder. GeneReviews
  2. Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S et al., 2019. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nature communications

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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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