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Zpráva o onemocněních · Dermatological

Restrictive Dermopathy (ZMPSTE24)

Whole genome sequencing reads the ZMPSTE24 gene for inherited changes that cause restrictive dermopathy, a rare condition in which the skin is tight and rigid and most babies die within the first weeks of life.

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, lethal condition before or soon after birth in which the skin is tight and rigid, restricting movement and breathing. It is caused by changes in both copies of the ZMPSTE24 gene.

Restrictive dermopathy is a rare condition in which the skin is tight, thin, rigid and translucent, restricting movement and breathing. Babies may have fixed joint contractures, reduced fetal movement and growth restriction before birth, and premature birth is common. Most babies are stillborn or die within the first weeks of life, and care is palliative and supportive.

The condition is caused by loss of function of both copies of ZMPSTE24, an enzyme that processes prelamin A. Unprocessed prelamin A builds up and damages cell nuclei, as in other progeroid conditions. Lung underdevelopment leads to breathing failure.

The condition is inherited in an autosomal recessive way. Care is palliative and supportive. Carrier testing of parents and relatives and genetic counselling are important, because testing in future pregnancies is possible.

Onemocnění, které analyzujeme

Autozomálně recesivní

Caused by loss of function of both copies of ZMPSTE24, an enzyme that processes prelamin A. Unprocessed prelamin A builds up and damages cell nuclei, as in progeroid conditions.

Příznaky a projevy

Babies have tight, thin, rigid and translucent skin, fixed joint contractures and an open, O-shaped mouth. Reduced fetal movement, growth restriction before birth and premature birth are seen. Lung underdevelopment leads to breathing failure, and most babies are stillborn or die within the first weeks of life.

Co se diagnózou změní

Care is palliative and supportive. Carrier testing of parents and relatives and genetic counselling are important, as testing in future pregnancies is possible.

Analyzované geny

Známé také jako

fetal hypokinesia sequence due to restrictive dermopathy; foetal hypokinesia sequence due to restrictive dermopathy; hyperkeratosis-contracture syndrome; restrictive dermopathy; restrictive dermopathy 1, lethal; tight skin contracture syndrome, lethal

MONDO:0800042OMIM 275210MedGen 1812447Zdroje: [2][1][3]

Proč sekvenování celého genomu

Restrictive dermopathy is inherited in a recessive way, so genetic counselling and testing in future pregnancies matter for families. Whole genome sequencing reads ZMPSTE24 in one test.

Options for future pregnancies

Once the ZMPSTE24 changes are known in a family, testing in future pregnancies is possible, and carrier testing of parents and relatives can be arranged. Genetic counselling helps families understand these options.

LMNA is not covered

Some people with restrictive dermopathy have a dominant change in LMNA instead of ZMPSTE24, and that gene is not covered by this report. A negative result for ZMPSTE24 therefore does not rule out the condition.

Omezení

  • Some people with restrictive dermopathy have a dominant change in the LMNA gene instead, which is not covered by this report.

Reference

  1. Ververi A, Babatseva E, Mitsiakos G, Karagiannopoulou G, Malakozi M, Patsatsi A et al., 2023. Restrictive dermopathy due to ZMPSTE24 deficiency. Clinical dysmorphology
  2. Moulson CL, Go G, Gardner JM, van der Wal AC, Smitt JH, van Hagen JM et al., 2006. Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. The Journal of investigative dermatology
  3. Worman HJ, Michaelis S, 2023. Prelamin A and ZMPSTE24 in premature and physiological aging. Nucleus (Austin, Tex.)

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