Dataset Information
Whole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS).
Ontology highlight
ABSTRACT:
PROVIDER: EGAS00001002193 | EGA |
REPOSITORIES: EGA
Publications
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Nature genetics 20170109 2
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behav ...[more]
