Genome-wide linkage and exome analyses identify variants of HMCN1 for splenic epidermoid cyst.

ABSTRACT:

Background

Splenic epidermoid cyst is a benign tumor-like lesion affecting the spleen and sometimes occurs in familial form. The causality of such rare diseases remain challenging, however recently, with the emergence of exome re-sequencing, the genetics of many diseases have been unveiled. In the present study, we performed a combinatorial approach of genome-wide parametric linkage and exome analyses for a moderate-sized Japanese family with frequent occurrence of splenic epidermoid cyst to identify the genetic causality of the disease.

Methods

Twelve individuals from the family were subject to SNP typing and exome re-sequencing was done for 8 family members and 4 unrelated patients from Kosovo. Linkage was estimated using multi-point parametric linkage analysis assuming a

SUBMITTER: Omer WH 

PROVIDER: S-EPMC4258954 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature