Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Elisa J RahikkalaMatti MyllykoskiReetta HinttalaPäivi VieiraNaemeh NayebzadehSimone WeissAstrid S PlompReginald E BittnerMitja I KurkiOuti KuisminAndrea M LewisMarja-Leena VäisänenHannaleena KokkonenJonne WestermannGünther BernertHannu TuominenAarno PalotieLauri AaltonenYaping YangLorraine PotockiJukka MoilanenSilvana van KoningsbruggenXia WangWolfgang M SchmidtPeppi KoivunenJohanna UusimaaPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
Biallelic loss-of-function P4HTM variants were shown to cause HIDEA syndrome. Our findings enable diagnosis of the condition, and highlight the importance of assessing the need for noninvasive ventilatory support in patients.