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Zpráva o onemocněních · Musculoskeletal

TRPV4-Related Skeletal Dysplasias

Whole genome sequencing reads the TRPV4 gene for inherited or new changes that cause skeletal dysplasias, from mild brachyolmia to severe metatropic dysplasia, which affect the spine and the long bones.

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 spectrum of inherited skeletal conditions, from mild brachyolmia to severe metatropic dysplasia, affecting the spine and growth of the long bones. They are caused by changes in the TRPV4 gene, a calcium channel in cartilage.

TRPV4-related skeletal dysplasias are a group of inherited conditions that affect the spine and the growth of the long bones. They range from milder forms such as brachyolmia to severe forms such as metatropic dysplasia, which causes a narrow chest and joint contractures and can affect breathing. Short stature with a short trunk and progressive curvature of the spine are typical.

The condition is caused by a change in one copy of the TRPV4 gene. TRPV4 makes a calcium channel that responds to mechanical signals in cartilage. The changes that cause the skeletal forms are usually gain-of-function, which means the channel is more active than normal. Other TRPV4 changes cause nerve and muscle conditions, such as Charcot-Marie-Tooth disease type 2C.

The condition follows an autosomal dominant pattern. Changes are often new, especially in severe forms, while milder forms are more often inherited from a parent. Because not everyone with a change has the same features, severity and age of onset cannot be predicted accurately.

Care focuses on symptoms, with orthopaedic follow-up that includes spinal imaging and assessment of the upper neck. Upper neck assessment is needed before surgery or anaesthesia, and breathing is checked in severe forms. Physical therapy, annual hearing checks and regular weight and height checks help maintain function.

Onemocnění, které analyzujeme

Autozomálně dominantní

Caused by gain-of-function changes in one copy of TRPV4, an ion channel that responds to mechanical signals in cartilage. Changes are often de novo, especially in severe forms, but can be inherited. Other TRPV4 changes cause nerve and muscle conditions.

Příznaky a projevy

Short stature with a short trunk, flattened vertebrae and progressive curvature of the spine are typical. Severe forms, such as metatropic dysplasia, cause a narrow chest and joint contractures, and can affect breathing. Milder forms include brachyolmia and spondylometaphyseal dysplasia. Some people also have instability of the upper neck or degenerative joint arthritis.

Co se diagnózou změní

Orthopaedic follow-up with spinal imaging, including assessment of the upper neck before anaesthesia, and breathing assessment in severe forms. Genetic counselling covers the 1 in 2 chance of passing it on and parental testing when a change appears new.

Analyzované geny

Zahrnuje 6 příbuzných podtypů ↓
  • autosomal dominant brachyolmia
  • familial digital arthropathy-brachydactyly
  • metatropic dysplasia
  • parastremmatic dwarfism
  • spondyloepimetaphyseal dysplasia, Maroteaux type
  • spondylometaphyseal dysplasia, Kozlowski type
MONDO:0018240Orphanet 364820MedGen 1842686Zdroje: [1][2][3][4]

Proč sekvenování celého genomu

A TRPV4 change is often new in severe forms but can be inherited in milder ones, so family testing can clarify the risk. Whole genome sequencing reads the TRPV4 gene in the same test.

Each child has a 1 in 2 chance

When a parent has a TRPV4 change, each child has a 1 in 2 chance of inheriting it. A child who inherits the change often has a similar overall pattern to the parent, although the age of onset and severity can differ.

Neck checks come before surgery

Upper neck assessment is needed before surgery or general anaesthesia, and spinal imaging is part of follow-up. Surgery is considered when spinal curvature affects breathing or causes pain, or when upper neck instability is present.

Reference

  1. McCray BA, Schindler A, Hoover-Fong JE, Sumner CJ, 2014. Autosomal Dominant TRPV4-Related Disorders. GeneReviews
  2. Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B et al., 2013. TRPV4-associated skeletal dysplasias. American journal of medical genetics. Part C, Seminars in medical genetics
  3. Das R, Goswami C, 2022. Role of TRPV4 in skeletal function and its mutant-mediated skeletal disorders. Current topics in membranes
  4. Metatropic dysplasia. MedlinePlus Genetics

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