Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly

American Journal of Medical Genetics, Part A

Volumn 164, Issue 6, 2014, Pages 1565-1570

  Faqeih, Eissa A ^a   Al Owain, Mohammed ^a,b   Colak, Dilek ^c   Kenana, Rosan ^d   Al Yafee, Yusra ^d   Al Dosary, Mazhor ^d   Al Saman, Abdulaziz ^c   Albalawi, Fadwa ^d   Al Sarar, Dalia ^d   Domiaty, Dalia ^d   Daghestani, Maha ^d,e   Kaya, Namik ^d  

^a KING FAHAD MEDICAL CITY   (Saudi Arabia)

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

^c Neurosciences Center   (Saudi Arabia)

^d KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^e KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

DEAF1; Homozygous p.R226W; Microcephaly; Syndromic intellectual disability; White matter abnormality

Indexed keywords

ARGININE; CYTOSINE; THYMINE; TRYPTOPHAN; DEAF1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SEROTONIN RECEPTOR;

ARTICLE; BRAIN DISEASE; BRAIN RADIOGRAPHY; CASE REPORT; CHILD; COHORT ANALYSIS; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DEAF1 GENE; DNA BINDING; EXOME; FAMILY STUDY; GENE; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SEIZURE; SEQUENCE ANALYSIS; TRANSCRIPTION REGULATION; WHITE MATTER; DNA SEQUENCE; EMBRYOLOGY; EPILEPSY; GENETICS; LEUKOENCEPHALOPATHY; MUTATION; NEURAL TUBE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD;

BASE SEQUENCE; CHILD, PRESCHOOL; EPILEPSY; EXOME; HUMANS; INTELLECTUAL DISABILITY; LEUKOENCEPHALOPATHIES; MALE; MICROCEPHALY; MUTATION; NEURAL TUBE; NUCLEAR PROTEINS; RECEPTORS, SEROTONIN; SEQUENCE ANALYSIS, DNA; WHITE MATTER;

EID: 84899972067     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36482     Document Type: Article

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