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Developmental Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James H. Tonsgard, Nikolas Mata-Machado
At least 10 different clinical phenotypes have been described. The cardinal feature is X-linked intellectual disability that is usually severe. Patients are usually divided into nonmalformation and malformation groups.
A Novel ATRX Mutation Presenting with Intellectual Disability and Severe Kyphoscoliosis
Published in Fetal and Pediatric Pathology, 2020
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by intellectual disability, short stature, microcephaly, districtive facial features, genital anomalies, hypotonia and in some cases mild microcytic anemia secondary to alpha-thalassemia. Hypogonadism, renal anomalies, skeletal defects are other commonly reported findings of this phenotype [1–5]. The syndrome is inherited in an X-linked manner and carrier females do not manifest typical findings of the sydrome [4]. Gibbons et al. [6] showed that mutations in the ATRX gene (# 300032) [7] causes ATR-X syndrome.
Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements
Published in The World Journal of Biological Psychiatry, 2019
Giulio Piluso, Palmiero Monteleone, Silvana Galderisi, Teresa Giugliano, Alessandro Bertolino, Paola Rocca, Alessandro Rossi, Armida Mucci, Eugenio Aguglia, Ileana Andriola, Antonello Bellomo, Anna Comparelli, Francesco Gambi, Andrea Fagiolini, Carlo Marchesi, Rita Roncone, Emilio Sacchetti, Paolo Santonastaso, Alberto Siracusano, Paolo Stratta, Alfonso Tortorella, Luca Steardo, Paola Bucci, Vincenzo Nigro, Mario Maj
For the de novo duplication at Xp11.4, which involves TSPAN7 and was observed in patient S-60, it is worth noting that this gene is related to synaptic functions and encodes a cell-surface protein of the tetraspanin family, involved in cell growth and motility (Bassani et al. 2012). Rare variants of TSPAN7 have been found to be associated with X-linked intellectual disability in patients with autism spectrum disorders, and have been suggested to have a role also in schizophrenia (Noor et al. 2009; Piton et al. 2011; Utine et al. 2012).