Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

Journal of Medical Genetics

Volumn 51, Issue 12, 2014, Pages 806-813

  Hunt, David ^a   Leventer, Richard J ^b   Simons, Cas ^c   Taft, Ryan ^c,d,e   Swoboda, Kathryn J ^f   Gawne Cain, Mary ^g   Magee, Alex C ^h   Turnpenny, Peter D ⁱ   Baralle, Diana ^a,j  

^a PRINCESS ANNE HOSPITAL   (United Kingdom)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF QUEENSLAND   (Australia)

^d GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^e ILLUMINA INC   (United States)

^f UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^g SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^h BELFAST CITY HOSPITAL   (United Kingdom)

ⁱ ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^j UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; PURINE RICH ELEMENT BINDING PROTEIN A; TRIPTORELIN; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; PURA PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADENOHYPOPHYSIS; APNEA HYPOPNEA INDEX; ARTICLE; BRAIN DEVELOPMENT; CAENORHABDITIS ELEGANS; CAMPTODACTYLY; CHILD; DE NOVO FRAMESHIFT MUTATION; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAPHY; EVOKED VISUAL RESPONSE; EXOME; EYE MOVEMENT; FACE ASYMMETRY; FEEDING DIFFICULTY; FEMALE; FRAMESHIFT MUTATION; FRONTAL BOSSING; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; HYPOTHERMIA; INDEL MUTATION; INFANTILE SPASM; LEARNING DISORDER; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; MISSENSE MUTATION; MUSCLE HYPOTONIA; MYELINATION; NASOGASTRIC TUBE; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTOKINETIC NYSTAGMUS; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SEIZURE; SWALLOWING; TONIC SEIZURE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BRAIN; CASE REPORT; CHEMICAL STRUCTURE; CHEMISTRY; DEVELOPMENTAL DISABILITIES; FACIES; GENE ORDER; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; LEARNING DISORDERS; MUTATION; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; PROTEIN CONFORMATION;

ANIMALIA;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BRAIN; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DNA-BINDING PROTEINS; EXOME; FACIES; FEMALE; GENE ORDER; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; LEARNING DISORDERS; MAGNETIC RESONANCE IMAGING; MODELS, MOLECULAR; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; TRANSCRIPTION FACTORS;

EID: 84961289738     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102798     Document Type: Article

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