ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.

ABSTRACT:

Background

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder caused by mutations in ENG, ACVRL1, or SMAD4. Around 90% of HHT patients present with a heterozygous pathogenic genetic variation. Almost all cases of HHT have a family history. Very few cases are de novo or mosaicism. We describe a case with mutational mosaicism that would not be observed in the clinical routine when using Sanger sequencing or a NGS read coverage below app. 100.

Methods

DNA was extracted from peripheral blood leukocytes, and buccal swabs. The coding region, exon-intron boundaries, and the flanking sequences of the genes were sequenced by NGS.

Results

The proband had clinical HHT fulfilling the Curaçao criteria and genetic testing identified a frameshift m

SUBMITTER: Torring PM 

PROVIDER: S-EPMC5823686 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature