SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.
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ABSTRACT:
SUBMITTER: Stokes B
PROVIDER: S-EPMC5750110 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Publications
SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.
Stokes Bethany B Berger Seth I SI Hall Beth A BA Weiss Karin K Martinez Ariel F AF Hadley Donald W DW Murdock David R DR Ramanathan Subhadra S Clark Robin D RD Roessler Erich E Kruszka Paul P Muenke Maximilian M
Congenital anomalies 20170801 1
Holoprosencephaly (HPE) is failure of the forebrain to divide completely during embryogenesis. Incomplete penetrance has not been reported previously in SIX3 whole gene deletions, which are known to cause HPE. Both chromosomal microarray and whole exome sequencing (WES) were used to evaluate families with inherited HPE. Two families showed inherited deletions that contain SIX3 and were incompletely penetrant for HPE. Using WES, we ruled out parental mosaicism, a SIX3 hypomorph, and clinically si ...[more]
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