Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

ABSTRACT:

Purpose

To characterize the molecular genetics of autosomal recessive Noonan syndrome.

Methods

Families underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used to identify variants. The molecular consequences of observed splice variants were evaluated by reverse-transcription polymerase chain reaction.

Results

Twelve families with a total of 23 affected children with features of Noonan syndrome were evaluated. The phenotypic range included mildly affected patients, but it was lethal in some, with cardiac disease and leukemia. All of the parents were unaffected. Linkage analysis using a recessive model supported a candidate region in chr

SUBMITTER: Johnston JJ 

PROVIDER: S-EPMC6105555 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature