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

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 th...

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Bibliographic Details
Published in:	European journal of medical genetics Vol. 55; no. 3; pp. 216 - 221
Main Authors:	Marseglia, Giuseppina, Scordo, Maria Rosaria, Pescucci, Chiara, Nannetti, Genni, Biagini, Elisabetta, Scandurra, Valeria, Gerundino, Francesca, Magi, Alberto, Benelli, Matteo, Torricelli, Francesca
Format:	Journal Article
Language:	English
Published:	Netherlands Elsevier Masson SAS 01-03-2012
Subjects:	18q12.3 microdeletion Adolescent Carrier Proteins - genetics Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 18 - genetics Expressive speech impairment Haploinsufficiency Humans Intellectual Disability - genetics Language Development Disorders - genetics Male Medical Education Nuclear Proteins - genetics SETBP1 gene 18q12.3 microdeletion Expressive speech impairment SETBP1 gene
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Summary:	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 overlap between this patient and the cases previously reported enforce the hypothesis that SETBP1 haploinsufficiency may have a role in expressive language development.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1769-7212 1878-0849
DOI:	10.1016/j.ejmg.2012.01.005