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Betegségjelentés · Ophthalmological

Fraser Syndrome

Whole genome sequencing reads the FRAS1 and GRIP1 genes for changes that cause Fraser syndrome, a rare condition that affects the eyes, fingers and toes, kidneys, airway and genitals.

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A(z) condition ismertetése

A rare condition affecting development of the eyes, fingers, kidneys, airway and genitals, typically with eyelids that do not separate (cryptophthalmos) and joined fingers or toes. It is caused by changes in both copies of FRAS1, FREM2 or GRIP1.

Fraser syndrome is a rare condition that affects development before birth. Its features vary widely, but the eyes are often covered by skin (cryptophthalmos), fingers or toes are joined (syndactyly), and the kidneys, airway and genitals can be affected. Depending on severity, the condition can be fatal before or shortly after birth.

Fraser syndrome can be caused by changes in both copies of FRAS1, a protein that anchors the outer layer of skin to the tissue beneath during development. A second form, Fraser syndrome 3, is caused by changes in both copies of GRIP1, which helps place FRAS1 and related proteins correctly in developing skin. Both are inherited in a recessive way.

Fraser syndrome can also be caused by changes in FREM2, which this report does not cover, so a negative result here does not rule out the condition. Care is coordinated across eye, plastic, airway, kidney and urology specialists, with surgery for eyelid, hand and genital differences and close airway assessment at birth.

Parents are usually carriers, so each future child has a 1 in 4 chance of being affected. Carrier testing and prenatal testing can be offered in future pregnancies.

A vizsgált 2 betegség

Autoszomális recesszív

Fraser syndrome can be caused by changes in both copies of FRAS1 (Fraser syndrome 1), which makes a protein anchoring the outer skin layer to the tissue beneath during development.

Tünetek és jelek

Cryptophthalmos (skin covering one or both eyes), webbed or joined fingers and toes, and genital differences are the main features. Kidney absence or malformation, abnormalities of the larynx and ear or nose differences are common. Severity varies widely, and the condition can be fatal before or shortly after birth.

Mit változtat a diagnózis

Care is coordinated across eye, plastic, airway, kidney and urology specialists, with surgery for eyelid, hand and genital differences and close airway assessment at birth. Genetic counselling is recommended; parents are usually carriers, each future child has a 1 in 4 chance of being affected, and carrier and prenatal testing can be offered.

Vizsgált gének

Más néven

cryptophthalmos syndrome; cryptophthalmos-syndactyly syndrome; cyclopism; Fraser-Francois syndrome; Meyer-Schwickerath's syndrome; Ulrich-Feichtiger syndrome

Szintén szereplő specifikus formák

  • Fraser Syndrome 3

    Autoszomális recesszív

    Fraser syndrome 3 is caused by changes in both copies of GRIP1, which helps place FRAS1 and related proteins correctly in developing skin.

    GRIP1

3 kapcsolódó altípust tartalmaz ↓
  • Fraser syndrome 1
  • Fraser syndrome 2
  • Fraser syndrome 3
MONDO:0009046Orphanet 2052MedGen 82692Források: [1][3][4]

Miért a teljes genom szekvenálás

Fraser syndrome is recessive and can have more than one genetic cause, so the result shapes both care and family advice. Whole genome sequencing reads FRAS1 and GRIP1 in one test.

Two genes covered, a third not

Changes in FRAS1 or GRIP1 can each cause Fraser syndrome, and whole genome sequencing reads both genes in the same test. FREM2 is not covered by this report, so a negative result does not rule out the condition.

Recurrence risk and prenatal options

Parents are usually carriers, so each future child has a 1 in 4 chance of being affected. Carrier and prenatal testing can be offered once the family's changes are known.

Korlátok

  • Fraser syndrome can also be caused by changes in FREM2 (Fraser syndrome 2), which is not linked to this report. A negative result here does not rule out the condition.

Hivatkozások

  1. Fraser syndrome. MedlinePlus Genetics
  2. Saleem AA, Siddiqui SN, 2016. Fraser Syndrome. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
  3. FRAS1 gene. MedlinePlus Genetics
  4. McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C et al., 2003. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nature genetics
  5. GRIP1 gene. MedlinePlus Genetics
  6. Takamiya K, Kostourou V, Adams S, Jadeja S, Chalepakis G, Scambler PJ et al., 2004. A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. Nature genetics

További ophthalmological conditions

Minden feltétel →

Egy teszt. Egy életen át tartó válaszok.

Egy csomag, házhoz szállítva. Az egész genomját a diagnosztikai döntésekhez használt klinikai színvonalon szekvenáljuk. Orvos számára is használható jelentéseit 6–8 héten belül küldjük el a Genome Manager-be. Ezek tartósan érvényesek, és a tudomány fejlődésével frissülnek.

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