Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.

ABSTRACT:

Context

Most cases of autosomal recessive hypoparathyroidism (HYPO) are caused by loss-of-function mutations in GCM2 or PTH.

Objective

The objective of this study was to identify the underlying genetic basis for isolated HYPO in a kindred in which 3 of 10 siblings were affected.

Subjects

We studied the parents and the three adult affected subjects, each of whom was diagnosed with HYPO in the first decade of life.

Methods

We collected clinical and biochemical data and performed whole exome sequencing analysis on DNA from the three affected subjects after negative genetic testing for known causes of HYPO.

Results

Whole exome sequencing followed by Sanger sequencing revealed that all three affected subjects were compound heterozygous for two previously repo

SUBMITTER: Li D 

PROVIDER: S-EPMC5443324 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature