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Betegségjelentés · Ophthalmological

IFT140-Related Ciliopathy

Whole genome sequencing reads the IFT140 gene for changes in both copies that cause an inherited ciliopathy, which can affect the retina, the kidneys and the skeleton.

A betegségjelentés olyan ritka variánsokat keres, amelyekről ismert, hogy okozzák az általa lefedett betegségeket.

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A(z) condition ismertetése

An inherited condition affecting cilia that can cause retinal dystrophy, kidney disease and skeletal differences, as in Mainzer-Saldino syndrome. It is caused by changes in both copies of the IFT140 gene.

IFT140-related ciliopathy is an inherited condition that affects cilia, the small hair-like structures on cells. Its most consistent feature is retinal dystrophy, which can range from severe sight loss in infancy, known as Leber congenital amaurosis, to later-onset retinitis pigmentosa. Many people develop nephronophthisis, a kidney disease that can progress to kidney failure, and some have cone-shaped bone ends in the hands. Some people have retinal disease alone.

The condition is caused by changes in both copies of IFT140, which is part of the machinery that builds and maintains cilia. The features vary widely, and identical changes can cause different features in different people. Less often there is a narrow chest with short ribs and breathing difficulty in infancy, or liver involvement. A single IFT140 change can cause a different kidney condition, dominant polycystic kidney disease, which this report does not describe.

The condition is inherited in an autosomal recessive way, so genetic counselling explains the pattern and carrier testing is available for relatives. Regular eye, kidney and liver monitoring is recommended, with low-vision support. Kidney failure is treated with dialysis or transplantation, and breathing support may be needed for infants with a narrow chest.

A vizsgált betegség

IFT140-Related Recessive Ciliopathy

Autoszomális recesszív

Caused by changes in both copies of IFT140, part of the intraflagellar transport machinery that builds and maintains cilia. The features vary widely, and identical variants can cause different features in different people.

Tünetek és jelek

Retinal dystrophy, ranging from severe sight loss in infancy (Leber congenital amaurosis) to later-onset retinitis pigmentosa, is the most consistent feature. Many people develop nephronophthisis, a kidney disease that can progress to kidney failure, and cone-shaped bone ends in the hands. Less often there is a narrow chest with short ribs and breathing difficulties in infancy, or liver involvement. Some people have retinal disease alone.

Mit változtat a diagnózis

Regular eye, kidney and liver monitoring, with low-vision support; kidney failure is treated with dialysis or transplantation. Breathing support may be needed for infants with a narrow chest. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.

Vizsgált gének

Más néven

retinitis pigmentosa 80; short-rib thoracic dysplasia 9 with or without polydactyly

2 kapcsolódó altípust tartalmaz ↓
  • retinitis pigmentosa 80
  • short-rib thoracic dysplasia 9 with or without polydactyly
MONDO:0100509Források: [1][2][3][4]

Miért a teljes genom szekvenálás

IFT140-related ciliopathy can affect the eyes, kidneys and skeleton, and the same change can produce different features in different people.

Monitoring across several organs

Regular eye, kidney and liver monitoring is recommended, because the condition can affect several organs. Low-vision support is provided when sight is reduced. Dialysis or transplantation is used when kidney failure develops.

Recessive inheritance and a separate kidney condition

Because the condition is recessive, genetic counselling explains the pattern, and carrier testing is available for relatives. A single IFT140 change can cause a different kidney condition, so the result should be interpreted with care.

Korlátok

  • A single IFT140 change can separately cause a form of dominant polycystic kidney disease, which is not described in this report.

Hivatkozások

  1. Tan W, Lin A, Keppler-Noreuil K, 2013. Cranioectodermal Dysplasia. GeneReviews
  2. Walczak-Sztulpa J, Wawrocka A, Doornbos C, van Beek R, Sowińska-Seidler A, Jamsheer A et al., 2022. Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis. Frontiers in genetics
  3. IFT140 gene. MedlinePlus Genetics
  4. Mainzer-Saldino syndrome. MedlinePlus Genetics

További ophthalmological conditions

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