| Autor: |
Sirisha, Senthil, Sarmeela, Sharma, Sushma, Vishwakarma, Inderjeet, Kaur |
| Rok vydání: |
2020 |
| Předmět: |
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| Zdroj: |
Ophthalmic genetics. 42(1) |
| ISSN: |
1744-5094 |
| Popis: |
Traboulsi syndrome is a rare autosomal recessive genetic disorder. The present study aimed to identify the pathogenic variants in theDNA was isolated from the blood samples from 3 clinically diagnosed Traboulsi syndrome patients (n = 3) after obtaining a prior-informed consent. All three had classical ocular and facial dysmorphic features, and two of them also had associated cardiac problems. Mutation screening was performed for the exons ofA novel homozygous variant(c.1853 T A) in exon 21 was identified by Sanger sequencing in two of the three cases while a known pathogenic variant in exon 25 was identified in the third proband. The novel nonsense variant in exon 21 results in a premature truncation of gene resulting in a protein of 543 amino acids. This variant is not reported in ExAC, dbSNP and 1000 genome databases. Both the patients harboring this novel variant, had a unique presentation of Traboulsi syndrome with cardiac dysfunction.The novel pathogenic mutation displayed a perfect genotype-phenotype correlation in two probands of Traboulsi syndrome with cardiac dysfunction. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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