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Zpráva o onemocněních · Neurological

Pontocerebellar Hypoplasia (TSEN54 and MINPP1)

Whole genome sequencing reads the TSEN54 and MINPP1 genes for changes in both copies that cause pontocerebellar hypoplasia, in which the cerebellum and pons do not develop fully.

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 group of rare inherited conditions in which the cerebellum and pons, parts of the brain controlling movement, do not develop or are lost early in life. This report covers TSEN54, a common cause, and MINPP1.

Pontocerebellar hypoplasia is a group of rare inherited conditions in which the cerebellum and pons, parts of the brain that control movement, do not develop fully or are lost early in life. Babies usually show severe developmental delay with little or no motor development, slowly growing head size, and feeding and swallowing difficulties from infancy. Involuntary movements and seizures are common, and life expectancy is often shortened.

This report covers two genes. TSEN54 is a common cause, and it makes part of an enzyme that processes transfer RNA, a molecule needed to assemble proteins. MINPP1 changes cause a separate form, type 16. Other genes, such as TSEN2 and RARS2, can also cause pontocerebellar hypoplasia but are not part of this report.

Both conditions are inherited in an autosomal recessive way. Genetic counselling explains the pattern, and carrier and prenatal testing are available for families. Care is supportive, with feeding support, treatment of seizures and movement problems, physiotherapy and palliative care where needed.

Onemocnění, které analyzujeme

Pontocerebellar Hypoplasia

Autozomálně recesivní

Caused by changes in both copies of TSEN54 or MINPP1. TSEN54 is part of an enzyme that processes transfer RNA, and a common change, p.Ala307Ser, is found in pontocerebellar hypoplasia type 2. MINPP1 changes cause a separate form, type 16.

Příznaky a projevy

Severe developmental delay with little or no motor development, progressive microcephaly and feeding and swallowing difficulties from infancy. Involuntary movements (dystonia or chorea) and seizures are common. Many children have a shortened life expectancy.

Co se diagnózou změní

Care is supportive, with feeding support, seizure and movement treatment, physiotherapy and palliative care. Genetic counselling explains the recessive inheritance, and carrier and prenatal testing are available for families.

Analyzované geny

Známé také jako

isolated pontocerebellar hypoplasia; nonsyndromic pontocerebellar hypoplasia; PCH; pontoneocerebellar atrophy; pontoneocerebllar hypoplasia

Zahrnuje 29 příbuzných podtypů ↓
  • pontocerebellar hypoplasia type 1
  • pontocerebellar hypoplasia type 10
  • pontocerebellar hypoplasia type 1A
  • pontocerebellar hypoplasia type 1B
  • pontocerebellar hypoplasia type 2
  • pontocerebellar hypoplasia type 2A
  • pontocerebellar hypoplasia type 2B
  • pontocerebellar hypoplasia type 2C
  • pontocerebellar hypoplasia type 2D
  • pontocerebellar hypoplasia type 2E
  • pontocerebellar hypoplasia type 3
  • pontocerebellar hypoplasia type 4
  • pontocerebellar hypoplasia type 5
  • pontocerebellar hypoplasia type 6
  • pontocerebellar hypoplasia type 7
  • pontocerebellar hypoplasia type 8
  • pontocerebellar hypoplasia type 9
  • pontocerebellar hypoplasia, IIA 17
  • pontocerebellar hypoplasia, type 11
  • pontocerebellar hypoplasia, type 12
  • pontocerebellar hypoplasia, type 13
  • pontocerebellar hypoplasia, type 14
  • pontocerebellar hypoplasia, type 15
  • pontocerebellar hypoplasia, type 16
  • pontocerebellar hypoplasia, type 1C
  • pontocerebellar hypoplasia, type 1D
  • pontocerebellar hypoplasia, type 1E
  • pontocerebellar hypoplasia, type 1F
  • pontocerebellar hypoplasia, type 2F
MONDO:0020135Orphanet 98523MedGen 224703Zdroje: [1][2][3][4]

Proč sekvenování celého genomu

Pontocerebellar hypoplasia has many genetic causes, and this test covers two of them, TSEN54 and MINPP1.

Two genes in one test

TSEN54 and MINPP1 are both read in the same whole genome test rather than one after the other. Other causes of pontocerebellar hypoplasia, such as TSEN2 and RARS2, are not covered by this report.

A 1 in 4 chance for each sibling

If both parents are carriers of a TSEN54 change, each sibling of an affected child has a 1 in 4 chance of being affected. Carrier testing can be offered to relatives, and prenatal testing is available for families once the changes are known.

Omezení

  • Pontocerebellar hypoplasia has many other genetic causes, such as TSEN2 and RARS2, which are not part of this report.

Reference

  1. van Dijk T, Baas F, 2009. TSEN54 Pontocerebellar Hypoplasia. GeneReviews
  2. Pontocerebellar hypoplasia. MedlinePlus Genetics
  3. Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M et al., 2022. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. European journal of human genetics : EJHG
  4. Al-Maraghi A, Shaath R, Ford K, Aamer W, AlRayahi J, Hussein S et al., 2025. Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder. International journal of molecular sciences

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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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