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Zpráva o onemocněních · Musculoskeletal

X-Linked Chondrodysplasia Punctata 1 (ARSL)

Whole genome sequencing reads the ARSL gene on the X chromosome for inherited changes that cause X-linked chondrodysplasia punctata 1, a bone and cartilage condition that mainly affects boys.

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

An X-linked skeletal condition mainly affecting boys, causing a flat nose, short fingertips and stippled spots in growing bones seen on X-ray. It is caused by changes in the ARSL gene (formerly ARSE) on the X chromosome.

X-linked chondrodysplasia punctata 1 is a condition of cartilage and bone development that occurs almost exclusively in males. Spots of stippling, seen on X-ray in infancy, usually appear near the ends of bones and generally fade in early childhood. Short stature, a flattened nose with a flat nasal bridge and unusually short fingertips are other typical features.

It is caused by changes in ARSL, an arylsulfatase enzyme on the X chromosome that is thought to work with vitamin K-dependent processes in bone. Males are affected, while carrier females usually have no features.

Most affected males have minimal problems, and their skeletal findings improve by adulthood. Some have significant problems, including breathing difficulty from airway narrowing, instability or stenosis of the neck spine, and hearing loss. Imaging of the neck spine and an airway assessment before anaesthesia are part of care, and female relatives can be offered carrier testing.

Onemocnění, které analyzujeme

X-vázaně recesivní

Caused by changes in ARSL, an arylsulfatase enzyme on the X chromosome that is thought to work with vitamin K-dependent processes in bone. Males are affected and carrier females usually have no features.

Příznaky a projevy

Underdevelopment of the middle of the face with a flat nose (nasal hypoplasia) and short end bones of the fingers are typical, with stippled calcification of cartilage seen on X-rays in infancy that fades with age. Short stature is common. Less often there is narrowing or instability of the neck spine, airway narrowing, hearing loss or developmental delay.

Co se diagnózou změní

Imaging of the neck spine, airway assessment before anaesthesia, hearing tests and ear, nose and throat follow-up. Female relatives can be offered carrier testing, and genetic counselling explains the chance of passing it on.

Analyzované geny

Známé také jako

ARSE X-linked chondrodysplasia punctata; arylsulfatase E deficiency; brachytelephalangic chondrodysplasia punctata; CDPX1; chondrodysplasia punctata 1 X-linked recessive; chondrodysplasia punctata, X-linked recessive, X-linked recessive; CPXR; X-linked chondrodysplasia punctata caused by mutation in ARSE

MONDO:0010555OMIM 302950Orphanet 79345MedGen 777171Zdroje: [1][2][3]

Proč sekvenování celého genomu

This condition is inherited through the X chromosome, so the family's ARSL change matters for female relatives. Whole genome sequencing reads the ARSL gene.

The X chromosome shapes family risk

Males with the condition pass the change to all of their daughters and none of their sons. If a boy's mother carries the change, each pregnancy has a 50% chance of passing it on.

Neck spine checks before surgery

Cervical spine instability is assessed with flexion and extension X-rays every six to twelve months until growth is complete, and the spine should be imaged before a general anaesthetic. Extreme neck movement and contact sports should be avoided in people with instability.

Reference

  1. Braverman NE, Bober MB, Brunetti-Pierri N, Suchy SF, 2008. Chondrodysplasia Punctata 1, X-Linked. GeneReviews
  2. X-linked chondrodysplasia punctata 1. MedlinePlus Genetics
  3. ARSL gene. MedlinePlus Genetics

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