Asunto(s)
Fosfatidilinositol 3-Quinasa Clase Ia , Fenotipo , Humanos , Femenino , Masculino , Fosfatidilinositol 3-Quinasa Clase Ia/genética , Fosfatidilinositol 3-Quinasas/genética , Niño , Adolescente , Síndrome , Preescolar , Adulto , Malformaciones Vasculares/genética , Malformaciones Vasculares/patología , Malformaciones Vasculares/diagnóstico , Mutación , LactanteRESUMEN
A case of mosaic MTOR-associated hemimegalencephaly and hypomelanosis of Ito, died at 33 probably because of sudden unexpected death in epilepsy. Assessment of the variant allele fraction (VAF) in different tissues postmortem showed high variability not correlated with clinical features, representing the most detailed assessment of VAFs in different tissues to date.
Asunto(s)
Hipopigmentación , Humanos , Hipopigmentación/genética , Alelos , Autopsia , Serina-Treonina Quinasas TORRESUMEN
INTRODUCTION AND METHODS: We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers. RESULTS: These two series include several symptoms in common, with fairly similar distribution, which suggests that caregivers' data are close to physicians' data. For example, both series identified early childhood symptoms that were not previously described: feeding difficulties, mean walking age, and age at first words. DISCUSSION: Each of the two datasets provides complementary knowledge. We confirmed that symptoms are similar to those in the literature and provides more details on feeding difficulties. Caregivers considered that the symptom attention-deficit/hyperactivity disorder were most worrisome. Both series also reported sleep disturbance. Recently, anxiety has been reported in individuals with DDX3X variants. We strongly suggest that attention-deficit/hyperactivity disorder, anxiety, and sleep disorders need to be treated.