Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.

ABSTRACT:

Background

Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous autosomal recessive disorder characterized by an almost total lack of adipose tissue in the body. Mutations in the AGPAT2, BSCL2, CAV1 and PTRF genes define I-IV subtype of BSLC respectively and clinical data indicate that new causative genes remain to be discovered. Here, we retrieved 341 cases from 60 BSCL-related studies worldwide and aimed to explore genotype-phenotype correlations based on mutations of AGPAT2 and BSCL2 genes from 251 cases. We also inferred new candidate genes for BSCL through protein-protein interaction and phenotype-similarity.

Results

Analysis results show that BSCL type II with earlier age of onset of diabetes mellitus, higher risk to suffer from premature death and ment

SUBMITTER: Ren M 

PROVIDER: S-EPMC7191718 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature