Macrocephaly associated with the DICER1 syndrome.

ABSTRACT:

Purpose

Germ-line mutations in DICER1 increase the risk of various tumors, including pleuropulmonary blastoma. Macrocephaly and symmetric overgrowth have been reported in some, but not all, patients with mosaic DICER1 RNase IIIb mutations. The prevalence of these features in individuals with constitutional germ-line DICER1 mutations is unknown.

Methods

We analyzed prospectively collected auxology data from 67 DICER1 mutation carriers and 43 family controls. We assessed differences between groups using an exact test for proportions and generalized estimating equations for continuous dependent variables.

Results

Twenty-eight DICER1 mutation carriers (42%) were macrocephalic, and none had an occipitofrontal circumference (OFC) below the third centile, which significantly

SUBMITTER: Khan NE 

PROVIDER: S-EPMC5253131 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature