A 2.0Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum

European Journal of Medical Genetics

Volumn 56, Issue 9, 2013, Pages 526-528

  Takagi, Masaki ^a,b   Sasaki, Goro ^c   Mitsui, Toshikatsu ^a   Honda, Misa ^c   Tanaka, Yoko ^c   Hasegawa, Tomonobu ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^c TOKYO DENTAL COLLEGE   (Japan)

Author keywords

14q12; Array CGH assay; FOXG1; PRKD1; Regulatory elements

Indexed keywords

PHENOBARBITAL; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXG1; UNCLASSIFIED DRUG; VALPROIC ACID; FORKHEAD TRANSCRIPTION FACTOR; FOXG1 PROTEIN, HUMAN; NERVE PROTEIN;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME DELETION; CHROMOSOME DELETION 14Q12; CLINICAL FEATURE; CODING; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; GENE DOSAGE; GENE EXPRESSION; GENE MUTATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; MALE; MICROCEPHALY; NEUROIMAGING; PHENOTYPE; SCHOOL CHILD; TONIC CLONIC SEIZURE; 14Q12; ARRAY CGH ASSAY; CELL CULTURE; CHROMOSOME 14; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; FIBROBLAST; FOXG1; GENETICS; METABOLISM; MULTIPLE MALFORMATION SYNDROME; OPEN READING FRAME; PATHOLOGY; PRKD1; REGULATORY ELEMENTS; REGULATORY SEQUENCE; ABNORMALITIES, MULTIPLE; AGENESIS OF CORPUS CALLOSUM; DEVELOPMENTAL DISABILITIES;

14Q12; ARRAY CGH ASSAY; FOXG1; PRKD1; REGULATORY ELEMENTS;

ABNORMALITIES, MULTIPLE; AGENESIS OF CORPUS CALLOSUM; CELLS, CULTURED; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; CORPUS CALLOSUM; DEVELOPMENTAL DISABILITIES; FIBROBLASTS; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; MALE; MICROCEPHALY; NERVE TISSUE PROTEINS; OPEN READING FRAMES; REGULATORY ELEMENTS, TRANSCRIPTIONAL;

EID: 84884206753     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.05.012     Document Type: Article

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