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Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.
- Source :
-
Molecular Medicine Reports . 2016, Vol. 14 Issue 3, p2107-2110. 4p. - Publication Year :
- 2016
-
Abstract
- Trichohepatoenteric syndrome (THES) is a rare autosomal, recessively inherited disorder. Mutations in the tetratricopeptide repeat domain 37 (TTC37) gene and the superkiller viralicidic activity 2-like (SKIV2L) gene have been identified to cause THES. The present study reported a case of a Chinese boy, who presented clinically with intrauterine growth retardation, intractable diarrhea, facial dysmorphism, abnormal scalp hair shafts, immune disorders and liver involvement. Targeted next-generation sequencing and Sanger DNA sequencing showed compound heterozygous mutations of the SKIV2L gene. The present study was the first, to the best of our knowledge, to report a case of a boy with THES resulting from compound heterozygous mutations of the SKIV2L gene in China. Target sequence capture combined with high-throughput next-generation sequencing technologies have shown to be effective methods for the molecular genetic assessment of rare inherited disorders. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 17912997
- Volume :
- 14
- Issue :
- 3
- Database :
- Academic Search Index
- Journal :
- Molecular Medicine Reports
- Publication Type :
- Academic Journal
- Accession number :
- 117950080
- Full Text :
- https://doi.org/10.3892/mmr.2016.5503