Abstract:
:Ciliopathies, a growing pleotropic class of diseases due to mutations in genes that play an important role in primary cilia function. These highly conserved organelles are key to cell signaling. We now know, that mutations in one gene may lead to more than one ciliopathy phenotype and that one ciliopathy phenotype may be due to mutations in more than one gene. We studied the case of a female child with a novel ciliopathy phenotype and identified two novel mutations in the gene IFT80. Previously, mutations in IFT80 have been associated with a very narrow rib cage and failure of the lungs. Bone anomalies are also part of this IFT80-condition but with no vision problems documented. Our case had none of the features known to be associated with IFT80 mutations and had retinal degeneration (RD). This work broadens the IFT80-phenotype spectrum and also shows RD can be a feature of many ciliopathies.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Moran J,G Sanderson K,Maynes J,Vig A,Batmanabane V,Kannu P,Tavares E,Vincent A,Héon Edoi
10.1111/cge.13408subject
Has Abstractpub_date
2018-10-01 00:00:00pages
368-372issue
3-4eissn
0009-9163issn
1399-0004journal_volume
94pub_type
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