A5045558115- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Hedgehog Signaling Pathway Studies
- Biochemical and Molecular Research
- Epigenetics and DNA Methylation
- RNA and protein synthesis mechanisms
- Amino Acid Enzymes and Metabolism
- Parathyroid Disorders and Treatments
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- Genetic Syndromes and Imprinting
- DNA Repair Mechanisms
- Ubiquitin and proteasome pathways
- Bone health and treatments
Federico II University Hospital
2022-2023
Azienda Sanitaria Unità Locale di Reggio Emilia
2018
Istituti di Ricovero e Cura a Carattere Scientifico
2018
Ospedale Santa Maria
2018
BCKDK is an important key regulator of branched-chain ketoacid dehydrogenase complex activity by phosphorylating and so inactivating dehydrogenases, the rate-limiting enzyme amino acid metabolism. We identified, whole exome-sequencing analysis, p.His162Gln variant gene in a neonate, picked up newborn screening, with biochemical phenotype mild form maple syrup urine disease (MSUD). The same genetic picture was present father. Computational analysis mutation performed to better understand its...
KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay caused mutations in ANKRD11 , one of the ankyrin repeat‐containing cofactors. After advent whole exome sequencing, number clinical reports with diagnosis has increased, leading to a revision phenotypic spectrum associated this syndrome. Here, we report female child showing features addition caudal appendage at coccyx prominent skin fold peculiar calcaneus malformation. Exons...
Only a few patients with deletions or duplications at Xp11.4, bridging USP9X, DDX3X, and CASK genes, have been described so far. Here, we report on female harboring de novo Xp11.4p11.3 deletion male an overlapping duplication inherited from unaffected mother, presenting syndromic intellectual disability. We discuss the role of genes in human development describe effects Xp11.4 patients, respectively.
In 2007, we reported a toddler girl with megalencephaly, perisylvian polymicrogyria, hydrocephalus, postaxial polydactyly, developmental delay, hypotonia, and minor dysmorphisms.[1] We identified her as being affected by megalencephaly polymicrogyria polydactyly hydrocephalus syndrome (MPPH).
Abstract Hemizygous missense variants in the RPL10 gene encoding a ribosomal unit are responsible for an X‐linked syndrome presenting with intellectual disability (ID), autism spectrum disorder, epilepsy, dysmorphic features, and multiple congenital anomalies. Among 15 individuals ‐related disorder reported so far, only one patient had retinitis pigmentosa microcephaly was observed approximately half of cases. By exome sequencing, three Italian Spanish male children, from independent...
Biallelic loss-of-function (LoF) variants in CENPF gene are responsible for Strømme syndrome, a condition presenting with intestinal atresia, anterior ocular chamber anomalies, and microcephaly. Through an international collaboration, four individuals (three males one female) carrying biallelic variants, including two missense homozygous state LoF were identified by exome sequencing. All had variable degree of developmental delay/intellectual disability microcephaly (ranging from -2.9 SDS to...
X-linked hypophosphatemia is the most prevalent form of heritable rickets, characterized by an dominant inheritance pattern. The genetic basis a loss-of-function mutation in PHEX gene (Phosphate regulating with Homology to Endopeptidases on X chromosome), which leads enhanced production phosphaturic hormone FGF23. causes rickets children and osteomalacia adults. Clinical manifestations are numerous variable, including slowdown growth, swing-through gait progressive tibial bowing, related...