Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

Human Mutation

Volumn 32, Issue 11, 2011, Pages

  Pirozzi, Filomena ^a   Di Raimo, Francesca Romana ^a   Zanni, Ginevra ^b   Bertini, Enrico ^b   Billuart, Pierre ^c   Tartaglione, Tommaso ^d   Tabolacci, Elisabetta ^a   Brancaccio, Andrea ^a   Neri, Giovanni ^a   Chiurazzi, Pietro ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c INSTITUT COCHIN   (France)

^d Istituto di Radiologia di Universita Cattolica del Sacro Cuore di Roma   (Italy)

Author keywords

BAR domain; Cerebellar hypoplasia; OPHN1 gene; Subcortical atrophy; X linked mental retardation

Indexed keywords

AMINO ACID; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; MESSENGER RNA; MUTANT PROTEIN; OLIGOPHRENIN 1; PLECKSTRIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALPHA HELIX; AMINO ACID SEQUENCE; AMINO TERMINAL SEQUENCE; ARTICLE; CEREBELLUM HYPOPLASIA; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC CODE; HUMAN; INTRON; ITALY; LOSS OF FUNCTION MUTATION; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; RNA SPLICING; SEQUENCE HOMOLOGY; X CHROMOSOME LINKED DISORDER; X LINKED MENTAL RETARDATION;

AMINO ACID SEQUENCE; AMINO ACIDS; BASE SEQUENCE; CEREBELLUM; CYTOSKELETAL PROTEINS; DNA, COMPLEMENTARY; FEMALE; GENES, X-LINKED; GTPASE-ACTIVATING PROTEINS; HUMANS; INTELLECTUAL DISABILITY; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; NUCLEAR PROTEINS; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ALIGNMENT;

EID: 80054691367     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21567     Document Type: Article

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