FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.

ABSTRACT:

Background

Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. All the reported cases occurred sporadically. Although several causal genes of HPE and ectrodactyly have been identified, the genetic cause of Hartsfield syndrome remains unknown. We hypothesised that a single key developmental gene may underlie the co-occurrence of HPE and ectrodactyly.

Methods

We used whole exome sequencing in four isolated cases including one case-parents trio, and direct Sanger sequencing of three additional cases, to investigate the causative variants in Hartsfield syndrome.

Results

We identified a novel FGFR1 mutation in six out of seven patients. Affected residues

SUBMITTER: Simonis N 

PROVIDER: S-EPMC3756455 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature