A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

European Journal of Human Genetics

Volumn 21, Issue 8, 2013, Pages 887-890

  Rump, Andreas ^a   Hildebrand, Laura ^a   Tzschach, Andreas ^b,c   Ullmann, Reinhard ^c   Schrock, Evelin ^a   Mitter, Diana ^d  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d UNIVERSITY HOSPITAL LEIPZIG   (Germany)

Author keywords

EHMT1; Kleefstra syndrome; Mosaicism; Splice donor mutation

Indexed keywords

EUCHROMATIC HISTONE LYSINE N METHYLTRANSFERASE 1 PROTEIN; HISTONE LYSINE METHYLTRANSFERASE; UNCLASSIFIED DRUG;

ANEMIA; APNEA; ARTICLE; BRADYCARDIA; BRAIN RADIOGRAPHY; CASE REPORT; CHILD; CHILDHOOD DISEASE; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FAILURE TO THRIVE; FINGER MALFORMATION; GENE MUTATION; GENETIC DISORDER; GENETIC TRANSCRIPTION; GLIOSIS; HERNIA INCARCERATION; HERNIOPLASTY; HUMAN; HYPERBILIRUBINEMIA; HYPERMETROPIA; INGUINAL HERNIA; KLEEFSTRA SYNDROME; MALE; MICROCEPHALY; MOSAICISM; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEUTROPENIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 9; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; HEART DEFECTS, CONGENITAL; HISTONE-LYSINE N-METHYLTRANSFERASE; HUMANS; INTELLECTUAL DISABILITY; INTRONS; MALE; POINT MUTATION; RNA SPLICE SITES; RNA SPLICING; RNA, MESSENGER; TRANSCRIPTION, GENETIC; YOUNG ADULT;

EID: 84880921832     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.267     Document Type: Article

References (10)

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