372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment

European Journal of Medical Genetics
Giuseppina MarsegliaFrancesca Torricelli

Abstract

Several cases of interstitial deletion encompassing band 18q12.3 are described in patients with mild dysmorphic features, mental retardation and impairment of expressive language. The critical deleted region contains SETBP1 gene (SET binding protein 1). Missense heterozygous mutations in this gene cause Schinzel-Giedion syndrome (SGS, MIM#269150), characterized by profound mental retardation and multiple congenital malformations. Recently, a 18q12.3 microdeletion causing SETBP1 haploinsufficiency has been described in two patients that show expressive speech impairment, moderate developmental delay and peculiar facial features. The phenotype of individual with partial chromosome 18q deletions does not resemble SGS. The deletion defines a critical region in which SETBP1 is the major candidate gene for expressive speech defect. We describe an additional patient with the smallest 18q12.3 microdeletion never reported that causes the disruption of SETBP1. The patient shows mild mental retardation and expressive speech impairment with striking discrepancy between expressive and receptive language skills. He is able to communicate using gestures and mimic expression of face and body with surprising efficacy. The significant phenotypic...Continue Reading

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Citations

Oct 24, 2012·The Journal of Physiology·Wenzhi SunWayne N Frankel
Dec 18, 2014·The Behavioral and Brain Sciences·Kenneth John Aitken
Oct 8, 2015·Annual Review of Genetics·Sarah A Graham, Simon E Fisher
Jul 4, 2015·Journal of Medical Genetics·C P Barnett, B W M van Bon
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Oct 9, 2018·Journal of Paediatrics and Child Health·Angela T Morgan, Richard Webster
May 29, 2014·Nature Neuroscience·Alexander HoischenEvan E Eichler
Apr 24, 2020·New Directions for Child and Adolescent Development·Natalia RakhlinElena L Grigorenko
Sep 9, 2017·Oncotarget·Nicoletta CoccaroFrancesco Albano
Apr 3, 2019·Frontiers in Psychology·Amy Niego, Antonio Benítez-Burraco
Nov 9, 2018·Frontiers in Psychology·Elliot Murphy, Antonio Benítez-Burraco
Apr 20, 2021·European Journal of Human Genetics : EJHG·Nadieh A JansenBregje W van Bon
Apr 29, 2021·European Journal of Human Genetics : EJHG·Angela MorganBregje W van Bon

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