Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

BMC Medical Genetics

Volumn 16, Issue 1, 2015, Pages

  Mroske, Cameron ^a   Rasmussen, Kristen ^b   Shinde, Deepali N ^a   Huether, Robert ^a   Powis, Zoe ^a   Lu, Hsiao Mei ^a   Baxter, Ruth M ^a   McPherson, Elizabeth ^b   Tang, Sha ^a  

^a AMBRY GENETICS   (United States)

^b MARSHFIELD CLINIC   (United States)

Author keywords

ASD; Autism; Diagnostic exome sequencing; Family trio; Gain of function; Gonadal mosaicism; Macrocephaly; Megalencephaly; Missense alteration; MTOR

Indexed keywords

DIAZOXIDE; INITIATION FACTOR 4E; MAMMALIAN TARGET OF RAPAMYCIN; MAMMALIAN TARGET OF RAPAMYCIN COMPLEX 1; MAMMALIAN TARGET OF RAPAMYCIN COMPLEX 2; TUBERIN; MTOR PROTEIN, HUMAN; TARGET OF RAPAMYCIN KINASE;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ALEXANDER DISEASE; ARTICLE; CASE REPORT; CELL GROWTH; CHILD; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CRYPTORCHISM; DISEASE SEVERITY; EXOME; GAIN OF FUNCTION MUTATION; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GERMLINE MUTATION; GONADAL MOSAICISM; HUMAN; HUMAN CELL; HYPERINSULINEMIA; INFANT; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MALE; MENTAL DISEASE; MOLECULAR PATHOLOGY; MOSAICISM; MOTOR PERFORMANCE; MTOR GENE; NERVE CELL PLASTICITY; NEXT GENERATION SEQUENCING; PRESCHOOL CHILD; PROTEIN SYNTHESIS; SHORT TANDEM REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM; AUTISM; DEVELOPMENTAL DISORDER; DNA SEQUENCE; GENETICS; HIGH THROUGHPUT SEQUENCING; PATHOLOGY; PHYSIOLOGY; PROCEDURES; SIBLING; TESTIS; YOUNG ADULT;

AUTISTIC DISORDER; CHILD; DEVELOPMENTAL DISABILITIES; EXOME; GERM-LINE MUTATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; MALE; MEGALENCEPHALY; MOSAICISM; SEQUENCE ANALYSIS, DNA; SIBLINGS; TESTIS; TOR SERINE-THREONINE KINASES; YOUNG ADULT;

EID: 84959243976     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-015-0240-8     Document Type: Article

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