A pilot study of gene testing of genetic XXXX using targeted next-generation sequencing.

@entity1 @entity21535 @entity851 @entity28942 @entity22347 @entity18299 @entity7791 @entity2557 @entity4085 @entity23128 @entity6099 @entity13239 @entity15396 @entity34488 @entity794 @entity23343 @entity25028 @entity15089 @entity238
Molecular diagnosis of genetic @entity18299 is challenging for non-expert. A targeted next-generation sequencing technology was applied to identify the underlying molecular mechanism of @entity18299 and evaluate the contribution of these genes to @entity1 with @entity18299 encountered in pediatric endocrinology. A group of unrelated @entity1 (n=82), characterized by @entity851 , dysmorphology and X-ray abnormalities, of which mucopolysacharidoses, @entity7791 , @entity4085 owing to @entity2557 @entity25028 mutation had been excluded, were recruited in this study. Probes were designed to 61 genes selected according to the nosology and classification of genetic skeletal disorders of 2010 by Illumina's online DesignStudio software. DNA was hybridized with probes and then a library was established following the standard Illumina protocols. Amplicon library was sequenced on a MiSeq sequencing system and the data were analyzed by MiSeq Reporter. Mutations of 13 different genes were found in 44 of the 82 @entity1 (54%). Mutations of @entity794 gene and @entity15396 gene were found in nine @entity1 , respectively (9/44=20%), followed by COMP gene in 8 (18%), @entity23128 gene in 4 (9%), @entity6099 gene in 4 (9%), @entity13239 gene in 3 (6%) and @entity28942 , @entity34488 , @entity21535 , @entity23343 , @entity238 , @entity15089 , @entity22347 gene mutations in one @entity1 each (2% each). In conclusion, mutations of @entity794 , @entity15396 and COMP gene are common for @entity851 due to @entity18299 in outpatient clinics in pediatric endocrinology. Targeted next-generation sequencing is an efficient way to identify the underlying molecular mechanism of genetic @entity18299 .
