title: Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency.
abstract: 7qter deletion syndrome includes prenatal and/or postnatal growth retardation, microcephaly, psychomotor delay or mental retardation and a characteristic dysmorphism. If clinical features are well described, the molecular mechanisms underlying the 7qter deletion syndrome remain unknown. Those deletions usually arise de novo. Here, we describe a young boy with an abnormal phenotype consistent with a 7qter deletion syndrome. High resolution genomic analysis (Affymetrix Human Genome Wide SNP 6.0) revealed a 7q36.3 deletion encompassing NCAPG2, ESYT2, WDR60 and VIPR2, inherited from his asymptomatic father and paternal grandfather. In addition, the patient also harbored a MCPH1 deletion inherited from his healthy mother. Combined NCAPG2 and MCPH1 deletions were correlated with low mRNA levels and protein expression in the patient. MCPH1 and NCAPG2 proteins interaction is known to control chromosome structure and we thus propose that double heterozygosity for null mutations of those two genes of the Condensin II system contribute to mental deficiency with severe microcephaly phenotype.
authors.affiliation: UMR7355, CNRS, Orleans, France; Experimental and Molecular Immunology and Neurogenetics, University of Orleans, 3b rue de la Férollerie, 45071 Orleans Cedex 2, France; Genetic Department, Regional Hospital, 14 Avenue de l'Hôpital, 45100 Orleans, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Perche
authors.forename: Arnaud
authors.initials: A
authors.lastname: Menuet
authors.forename: Mélanie
authors.initials: M
authors.lastname: Marcos
authors.forename: Luyan
authors.initials: L
authors.lastname: Liu
authors.forename: Arnaud
authors.initials: A
authors.lastname: Pâris
authors.forename: Kagistia H
authors.initials: KH
authors.lastname: Utami
authors.forename: Dominique
authors.initials: D
authors.lastname: Kervran
authors.forename: Valere
authors.initials: V
authors.lastname: Cacheux
authors.forename: Béatrice
authors.initials: B
authors.lastname: Laudier
authors.forename: Sylvain
authors.initials: S
authors.lastname: Briault
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000378:metabolism; D018797:Cell Cycle Proteins; D002648:Child; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics / Q000378:metabolism*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003598:Cytoskeletal Proteins; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D017353:Gene Deletion; D056426:Genetic Loci / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D046912:Multiprotein Complexes / Q000235:genetics* / Q000378:metabolism; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D013577:Syndrome
chemical_list: D018797:Cell Cycle Proteins; D002868:Chromosomal Proteins, Non-Histone; D003598:Cytoskeletal Proteins; D004268:DNA-Binding Proteins; C460645:MCPH1 protein, human; D046912:Multiprotein Complexes; C000589016:NCAPG2 protein, human; D009419:Nerve Tissue Proteins; C108312:condensin complexes; D000251:Adenosine Triphosphatases
keywords: 7qter deletion syndrome; MCPH1; Mental deficiency; Microcephaly; NCAPG2