These erythroid cells appear very similar to those present in the proband’s bone marrow aspirate (Figure 1A insets) and were confirmed by confocal microscopy to be devoid of DNA (Figure 4D). [ncbi.nlm.nih.gov]

• Anemia

  Keywords: VPS4A, congenital dyserythropoietic anemia, hemolytic anemia, neurodevelopmental disorder, ESCRT-III, transferrin receptor, vesicle trafficking, iPSCs, erythropoiesis, cytokinesis Main Text The congenital dyserythropoietic anemias (CDAs) are [ncbi.nlm.nih.gov]

• Feeding Difficulties

  Both individuals displayed severe ID, microcephaly, and feeding difficulties as well as cerebral atrophy with increased intensities in bilateral basal ganglia and thalami on brain MRI (Text S1). [ncbi.nlm.nih.gov]

• Epilepsy

  Inclusion criteria for the probands were: 1) absence of a history of ID, epilepsy or ASD in first or second-degree relatives; 2) moderate or severe ID with or without epilepsy or autistic features; 3) absence of pathogenic copy number variants as revealed [ncbi.nlm.nih.gov]

• Asymptomatic

  Her asymptomatic parents were heterozygous for this variant and had a normal hematologic phenotype. [ncbi.nlm.nih.gov]

• Failure to Thrive

  […] delay, seizure disorder, microcephaly, microgyria, dystonia (axial hypotonia with appendicular hypertonia), congenital bilateral cataracts, failure to thrive, chronic kidney disease (stage II-III) 3 c.83C>T (p.Ala28Val) homozygous 3 y.o., F, Arabic 6.9 [ncbi.nlm.nih.gov]

• Hepatosplenomegaly

  Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. [ncbi.nlm.nih.gov]

• Seizure

  […] frequent urinary tract infections 2 de novo c.608G>A (p.Gly203Glu) heterozygous 5 y.o., M, European- and Hispanic-American 6.1 40–500 80–100 F 4093, LIC 8.82 at 5y.o., on deferasirox neonate (EGA 34 wks) every 4–10 weeks severe global developmental delay, seizure [ncbi.nlm.nih.gov]

• Dystonia

  >A (p.Gly203Glu) heterozygous 5 y.o., M, European- and Hispanic-American 6.1 40–500 80–100 F 4093, LIC 8.82 at 5y.o., on deferasirox neonate (EGA 34 wks) every 4–10 weeks severe global developmental delay, seizure disorder, microcephaly, microgyria, dystonia [ncbi.nlm.nih.gov]

• Global Developmental Delay

  heterozygous 5 y.o., M, European- and Hispanic-American 6.1 40–500 80–100 F 4093, LIC 8.82 at 5y.o., on deferasirox neonate (EGA 34 wks) every 4–10 weeks severe global developmental delay, seizure disorder, microcephaly, microgyria, dystonia (axial [ncbi.nlm.nih.gov]

Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life (Table S1). [ncbi.nlm.nih.gov]

Similarly, DNMs were found to be implicated in the etiology of other neurodevelopmental disorders overlapping with ID, such as autism spectrum disorders (ASD), epileptic encephalopathy and schizophrenia [6]–[10]. [ncbi.nlm.nih.gov]

Venetucci L, Denegri M, Napolitano C, Priori SG (2012) Inherited calcium channelopathies in the pathophysiology of arrhythmias. Nat Rev Cardiol 9: 561–575. [PubMed] [Google Scholar] 40. [ncbi.nlm.nih.gov]

We concluded that heterozygous expression of mutant VPS4A in proband cells does not affect the cellular distribution of a core ESCRT-III complex member, prevent formation of ILVs, or adversely affect the degradation of EGFR. [ncbi.nlm.nih.gov]