A sister and brother with developmental delay, hirsutism and variable nail hypoplasia are described. The facial features of these sibs are striking. We postulate that this represents a new syndrome, the inheritance of which is unknown.
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http://dx.doi.org/10.1097/00019605-200009040-00002 | DOI Listing |
Semin Immunopathol
January 2025
Department of Obstetrics and Fetal Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Overweight and obesity (OWO) are linked to dyslipidemia and low-grade chronic inflammation, which is fueled by lipotoxicity and oxidative stress. In the context of pregnancy, maternal OWO has long been known to negatively impact on pregnancy outcomes and maternal health, as well as to imprint a higher risk for diseases in offspring later in life. Emerging research suggests that individual lipid metabolites, which collectively form the lipidome, may play a causal role in the pathogenesis of OWO-related diseases.
View Article and Find Full Text PDFJ Investig Med High Impact Case Rep
January 2025
Faculty of Medicine and Health Sciences, Palestine Polytechnic University, Hebron, Palestine.
Rafiq syndrome, MAN1B1-CDG, was described in 2010 and associated with genetic mutation in MAN1B1 gene in 2011. The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. The syndrome belongs to a group of metabolic disorders called Congenital Glycosylation Disorders (CGD).
View Article and Find Full Text PDFCase Rep Genet
January 2025
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, 2825 50th Street, Davis, Sacramento 95817, California, USA.
Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due to CGG trinucleotide repeat expansion of more than 200 repeats in the 5'UTR (untranslated region) of (Fragile X Messenger Ribonucleoprotein 1) causing promoter methylation and transcriptional silencing. However, not all patients presenting with the characteristic phenotype and point/frameshift mutations with deletions in have been described in the literature.
View Article and Find Full Text PDFHGG Adv
January 2025
GeneDx LLC, Gaithersburg, Maryland, 20877.
The ARHGEF40 gene, also known as SOLO, encodes a RhoA-targeting guanine nucleotide exchange factor (GEF) and is currently considered a candidate gene with a potential relationship to disease. Our laboratory has confirmed variants at position p.Arg225 of the ARHGEF40 protein in multiple unrelated individuals with a phenotype including dysmorphic features, congenital anomalies and neurodevelopmental abnormalities.
View Article and Find Full Text PDFPhysiol Plant
January 2025
KWS SEMILLAS IBÉRICA S.L.U, Finca Las Monjas, Miranda, Murcia, Spain.
Stomatal abundance sets plants' potential for gas exchange, impacting photosynthesis and transpiration and, thus, plant survival and growth. Stomata originate from cell lineages initiated by asymmetric divisions of protodermal cells, producing meristemoids that develop into guard cell pairs. The transcription factors SPEECHLESS, MUTE, and FAMA are essential for stomatal lineage development, sequentially driving cell division and differentiation events.
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