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Zpráva o onemocněních · Neurological

POLR1C-Related Disorder

Whole genome sequencing reads the POLR1C gene for inherited changes in both copies that can cause Treacher Collins syndrome, a facial condition, or 4H leukodystrophy, which affects the brain's white matter.

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 that can cause either Treacher Collins syndrome, which affects the development of the face, or a hypomyelinating leukodystrophy affecting the brain's white matter. It is caused by changes in both copies of the POLR1C gene.

POLR1C-related disorder is a rare inherited condition that can take one of two forms. Treacher Collins syndrome affects the development of the face, with underdeveloped cheekbones and jaw, eyes that slant downwards, and ear differences that can cause hearing loss. Intellect is typically normal in this form.

It is caused by changes in both copies of POLR1C, a subunit shared by two enzymes, RNA polymerases I and III, which make ribosomal and other essential RNAs. Different changes produce either the facial condition or 4H leukodystrophy. In 4H leukodystrophy there is progressive unsteadiness, tremor and spasticity, with delayed or missing teeth and delayed puberty.

Treacher Collins syndrome is managed by a craniofacial team, with airway, feeding, hearing and surgical care. The leukodystrophy is managed with neurological, dental and endocrine care. Both parents of an affected child are usually carriers, so each further child has a 1 in 4 chance of being affected.

Onemocnění, které analyzujeme

Autozomálně recesivní

Caused by changes in both copies of POLR1C, a subunit shared by RNA polymerases I and III, which make ribosomal and other essential RNAs. Different changes produce either a craniofacial condition (Treacher Collins syndrome) or 4H leukodystrophy.

Příznaky a projevy

In Treacher Collins syndrome, the cheekbones and jaw are underdeveloped, the eyes slant downwards with notched lower eyelids, and ear differences cause conductive hearing loss. In 4H leukodystrophy (hypomyelination, hypodontia and hypogonadotropic hypogonadism), there is progressive unsteadiness, tremor and spasticity with delayed or missing teeth and delayed puberty. Intellect is often normal in Treacher Collins syndrome but may be affected in the leukodystrophy.

Co se diagnózou změní

Treacher Collins syndrome is managed by a craniofacial team with airway, feeding, hearing and surgical care. The leukodystrophy is managed with neurological, dental and endocrine care. Both parents of an affected child are usually carriers, so each further child has a 1 in 4 chance of being affected; genetic counselling and carrier testing of relatives are available.

Analyzované geny

Zahrnuje 2 příbuzných podtypů ↓
  • leukodystrophy, hypomyelinating, 11
  • Treacher Collins syndrome 3
MONDO:0700278Zdroje: [1][2][3]

Proč sekvenování celého genomu

Changes in POLR1C can cause either a facial condition or a brain white matter condition. Whole genome sequencing reads POLR1C only, so a negative result does not rule out other causes.

Relatives can be offered carrier testing

Each sibling of an affected child has a 1 in 4 chance of being affected and a 1 in 2 chance of being an asymptomatic carrier. Once the POLR1C changes are known, carrier testing for relatives and prenatal diagnosis are possible.

Other genes can cause similar conditions

Treacher Collins syndrome is most often caused by TCOF1, and 4H leukodystrophy can also be caused by POLR3A or POLR3B. These genes are not analysed in this report, so a negative result does not rule them out.

Omezení

  • Treacher Collins syndrome is most often caused by TCOF1, and 4H leukodystrophy can also be caused by POLR3A or POLR3B. This report analyses POLR1C only, so a negative result does not rule out these conditions.

Reference

  1. Barbosa M, Jabs EW, Huston S, 2004. Treacher Collins Syndrome. GeneReviews
  2. Bernard G, Vanderver A, 2012. POLR3-Related Leukodystrophy. GeneReviews
  3. POLR1C gene. MedlinePlus Genetics

Další neurological conditions

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