Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP 4 gene‐a case report from India
| Autor: | Renu George, Finn P. Reinholt, Sridhar Santhanam, Geir J. Braathen, Aaron Chapla, Hilde Tveitan Hilmarsen, Denis Khnykin, Frode L. Jahnsen, Rekha Samuel |
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| Rok vydání: | 2015 |
| Předmět: |
Genetics
Indian patient business.industry Nonsense mutation Case Report novel sequence variant Case Reports General Medicine medicine.disease Compound heterozygosity 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine FATP4 030220 oncology & carcinogenesis SLC27A4 Mutation (genetic algorithm) medicine Missense mutation Ichthyosis prematurity syndrome business Gene |
| Zdroj: | Clinical Case Reports |
| ISSN: | 2050-0904 |
| Popis: | Key Clinical Message Ichthyosis prematurity syndrome (IPS) is reported mainly from Scandinavia where most of the cases are homozygous or compound heterozygous for the nonsense mutation c.504C>A (p.Cys168*) in exon3 indicating a common ancestor for this mutation. The occurrence of IPS in an Indian patient suggests that it is more widespread than previously reported. |
| Databáze: | OpenAIRE |
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