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Zpráva o onemocněních · Musculoskeletal

Fontaine Progeroid Syndrome

Whole genome sequencing reads the SLC25A24 gene for the changes that cause Fontaine progeroid syndrome, a condition with restricted growth before birth, an aged appearance and skull and facial differences.

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 condition with growth restriction from before birth, an aged appearance with little fat under the skin, and differences in the skull and face. It is caused by new changes in the SLC25A24 gene.

Fontaine progeroid syndrome is a rare condition in which growth is restricted from before birth. Affected babies have an aged appearance, with thin, wrinkled skin, visible veins and little fat under the skin. The aged look is most noticeable in infancy and improves with time.

The condition is caused by specific recurrent changes in one copy of SLC25A24, a gene for a carrier protein in the inner membrane of mitochondria, the energy-producing parts of cells. The changes arose as new changes in the people reported so far, and the condition includes the disorder previously called Gorlin-Chaudhry-Moss syndrome.

The skull often has a large soft spot or early-fused sutures, called craniosynostosis, with a flat midface and small eyes. Short fingertips, dental differences and excess body hair are also seen, and there may be heart, genital or eye differences.

The condition is autosomal dominant and usually arises from a new change, so the risk to future pregnancies is presumed to be low. Care is largely symptomatic and involves craniofacial, dental, growth and heart assessment, with surgery for craniosynostosis if needed.

Onemocnění, které analyzujeme

Autozomálně dominantní

Caused by specific recurrent changes in one copy of the SLC25A24 gene, a mitochondrial transporter, which alter how the protein works. Changes have arisen de novo in reported cases. The condition includes the disorder previously called Gorlin-Chaudhry-Moss syndrome.

Příznaky a projevy

Growth restriction before and after birth, with thin, wrinkled skin, visible veins and loss of fat under the skin giving an aged appearance. The skull often has a large soft spot or early-fused sutures (craniosynostosis), with a flat midface and small eyes. Short fingertips, dental differences and excess body hair are also seen. There may also be heart, genital or eye differences.

Co se diagnózou změní

Care involves craniofacial, dental, growth and heart assessment, with surgery for craniosynostosis if needed. Most cases arise de novo, so genetic counselling and parental testing help clarify recurrence risk.

Analyzované geny

Známé také jako

craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora; craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence; craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies; craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; dental and eye anomalies, patent ductus arteriosus, and normal intelligence; dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome; FPS; GCM syndrome; GCMS; Gorlin Chaudhry Moss syndrome; Petty Laxova Wiedemann syndrome; Petty syndrome; progeroid syndrome congenital Petty type; progeroid syndrome Petty type

MONDO:0012853OMIM 233500OMIM 612289Orphanet 2095Orphanet 2963Orphanet 697101MedGen 394125Zdroje: [1][3][4]

Proč sekvenování celého genomu

Fontaine progeroid syndrome usually arises from a new change, so genetic counselling helps families understand the recurrence risk. Whole genome sequencing reads SLC25A24 in one test.

Heart and craniofacial checks

Care involves assessment by craniofacial, dental, growth and heart specialists, with surgery for craniosynostosis when it is needed. The report also notes that contact sports and isometric exercise may need restricting if cranial anomalies or aortic dilatation are present.

Parental testing after a new change

Most cases arise from a new change in the affected child, so the risk to future pregnancies is presumed to be low. Parental testing and genetic counselling can still help clarify the recurrence risk, and prenatal or preimplantation testing may be considered.

Reference

  1. Velasco D, Olney AH, Starr L, 2022. SLC25A24 Fontaine Progeroid Syndrome. GeneReviews
  2. Pannier E, Sekri A, Roux N, Vasiljevic A, El Khattabi L, Chatron N et al., 2024. Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism. Birth defects research
  3. Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P et al., 2017. De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. American journal of human genetics
  4. Gorlin-Chaudhry-Moss syndrome. MedlinePlus Genetics

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