A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations

American Journal of Medical Genetics, Part A

Volumn 149, Issue 8, 2009, Pages 1655-1660

  Reish, Orit ^a,b   Fullston, Tod ^c,d   Regev, Miriam ^a   Heyman, Eli ^a   Gecz, Jozef ^c,d  

^a ASSAF HAROFEH MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^d UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

27 bp duplication; ARX; Infantile spasms; Mosaicism; Polyalanine tract

Indexed keywords

ALANINE;

ALLELE; AMNIOCENTESIS; ARISTALESS RELATED HOMEOBOX GENE; ARTICLE; BRAIN BIOPSY; CASE REPORT; CENTRAL NERVOUS SYSTEM; CHILD; CHROMOSOME 27 BP DUPLICATION; CHROMOSOME DUPLICATION; CHROMOSOME PAIRING; CLINICAL FEATURE; COMPARATIVE STUDY; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; ECHOCARDIOGRAPHY; EMBRYO; EMBRYO DEVELOPMENT; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN GENOME; HUMAN TISSUE; HYPSARRHYTHMIA; INFANT; INFANTILE SPASM; LABORATORY TEST; MALE; MITOSIS; MOSAICISM; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NUCLEOTIDE SEQUENCE; PERIPHERAL NERVOUS SYSTEM; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; VERTEBRATE;

ADULT; AMINO ACID SEQUENCE; BASE PAIRING; BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY CHARACTERISTICS; FEMALE; GENE DUPLICATION; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MOSAICISM; PEDIGREE; PHENOTYPE; SYNDROME; TRANSCRIPTION FACTORS; ZYGOTE;

VERTEBRATA;

EID: 68049097103     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32842     Document Type: Article

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