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Zpráva o onemocněních · Neurological

SPTBN4-Related Neurodevelopmental Disorder

Whole genome sequencing reads the SPTBN4 gene for inherited changes in both copies that cause severe low muscle tone, developmental delay, nerve damage and hearing problems from infancy.

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 causing severe low muscle tone, developmental delay, damage to the peripheral nerves and hearing problems from infancy. It is caused by changes in both copies of the SPTBN4 gene.

SPTBN4-related neurodevelopmental disorder is a rare inherited condition that causes severe low muscle tone and developmental delay from early infancy. Speech and walking are often absent or very limited, and most affected people need tube feeding. Damage to the peripheral nerves and hearing problems are also features, and about half of people develop seizures.

It is caused by changes in both copies of SPTBN4, which encodes beta-IV spectrin, a scaffolding protein that organises the electrical signalling sites of nerve fibres. A motor neuropathy is typical, which can cause weakness and reduced reflexes, and breathing and feeding difficulties are common.

Care is supportive, with feeding and breathing support, physiotherapy, and hearing and vision assessment. Each parent carries one changed copy, so genetic counselling and carrier testing for relatives clarify recurrence risk.

Onemocnění, které analyzujeme

Autozomálně recesivní

Caused by changes in both copies of SPTBN4, which encodes beta-IV spectrin, a scaffolding protein that organises the electrical signalling sites of nerve fibres. Each parent carries one changed copy.

Příznaky a projevy

Profound low muscle tone and severe developmental delay from early infancy, with absent or very limited speech and walking. A motor neuropathy is typical, and auditory neuropathy and visual impairment are also reported. Breathing and feeding difficulties are common, and about half of affected people develop seizures.

Co se diagnózou změní

Supportive care with feeding and breathing support, physiotherapy, and hearing and vision assessment. Genetic counselling and carrier testing of relatives clarify recurrence risk.

Analyzované geny

Známé také jako

NEDHND

MONDO:0060496OMIM 617519MedGen 1382171Zdroje: [1][2][3]

Proč sekvenování celého genomu

This condition is inherited in a recessive way, so each sibling of an affected person has a 1 in 4 chance of being affected. Whole genome sequencing reads the SPTBN4 gene.

Relatives can be offered carrier testing

Each sibling of an affected person has a 1 in 4 chance of being affected, a 1 in 2 chance of being an asymptomatic carrier, and a 1 in 4 chance of being unaffected and not a carrier. Once the SPTBN4 changes are known, carrier testing for relatives, prenatal testing and preimplantation testing are possible.

Breathing and feeding need close support

Ventilator support such as BiPAP is used for respiratory distress, and feeding therapy or a gastrostomy tube may be needed for persistent feeding difficulties. Hearing aids may help people with hearing loss, and routine assessments track growth, nutrition and joint mobility.

Reference

  1. Ortiz-Gonzalez X, Wierenga K, 2020. SPTBN4 Disorder. GeneReviews
  2. Buelow M, Süßmuth D, Smith LD, Aryani O, Castiglioni C, Stenzel W et al., 2022. Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum. European journal of human genetics : EJHG
  3. AlQudairy H, AlMuhaizea MA, Tohary M, Alfuraih M, Alnafisah A, AlHargan A et al., 2025. Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness. Orphanet journal of rare diseases

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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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