Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy
| Autor: | Paloma Cabanas, Pilar Caamaño, Jacobo Limeres, Alejandro Brea-Fernández, David Dacruz-Álvarez, Lourdes Loidi |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Retinal degeneration Spliceosome RNA Splicing Dwarfism 030105 genetics & heredity Biology Short stature Cyclophilins 03 medical and health sciences Hypergonadotropic hypogonadism Cataracts Exome Sequencing Genetics medicine Humans Abnormalities Multiple Skeleton Genetics (clinical) Exome sequencing Retinal Degeneration Infant medicine.disease Phenotype 030104 developmental biology RNA splicing Female medicine.symptom |
| Zdroj: | Journal of Human Genetics. 64:1133-1136 |
| ISSN: | 1435-232X 1434-5161 |
| DOI: | 10.1038/s10038-019-0664-7 |
| Popis: | Cyclophilins are a type of peptidyl-prolyl cis-trans isomerases. CWC27, one of the known human cyclophilins, is recruited by the spliceosome for the pre-mRNA splicing process. Biallelic deleterious variants in CWC27 lead to a spectrum of overlapping phenotypes including retinal degeneration, skeletal anomalies, short stature, and neurological defects. The present work reports a woman showing these clinical features, in addition to hypergonadotropic hypogonadism, hypoplastic/agenesic teeth, and cataracts, not previously associated with such phenotypic spectrum. Whole exome sequencing on this patient identified a novel CWC27 homozygous variant predicted to originate a severely truncated protein and the consequent loss of functionality. The clinical and genetic characterization of such patient could provide further insight into the underlying causes of the spliceosomopathies. |
| Databáze: | OpenAIRE |
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