Beemer–Langer syndrome is a ciliopathy due to biallelic mutations in IFT122
| Autor: | Denise P. Cavalcanti, Karina C. Silveira, Carolina Araujo Moreno |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Short Rib-Polydactyly Syndrome Biology Ciliopathies Bone and Bones Craniosynostoses 03 medical and health sciences Fetus Ectodermal Dysplasia Genetics medicine Humans Gene Alleles Genetics (clinical) Adaptor Proteins Signal Transducing Polydactyly Cilium Infant Newborn Proteins medicine.disease Phenotype Sensenbrenner syndrome Cytoskeletal Proteins Ciliopathy 030104 developmental biology Mutation Biogenesis |
| Zdroj: | American Journal of Medical Genetics Part A. 173:1186-1189 |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | Since most short-rib polydactyly phenotypes are due to genes involved with biogenesis and maintenance of the primary cilium, this group of skeletal dysplasias was recently designated as ciliopathies with major skeletal involvement. Beemer-Langer syndrome or short-rib polydactyly type IV, was first described in 1983, and has, thus far, remained without a defined molecular basis. The most recent classification of the skeletal dysplasias referred to this phenotype as an as-yet unproven ciliopathy. IFT122 is a gene that encodes a protein responsible for the retrograde transport along the cilium; it has been associated with this group of skeletal dysplasias. To date, mutations in this gene were only found in Sensenbrenner syndrome. Using a panel of skeletal dysplasias genes, including 11 related to SRP, we identified biallelic mutations in IFT122 ([c.3184G>C];[c.3228dupG;c.3231_3233delCAT]) in a fetus with a typical phenotype of SRP-IV, finally confirmed that this phenotype is a ciliopathy and adding to the list of ciliopathies with major skeletal involvement. |
| Databáze: | OpenAIRE |
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