A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations

European Journal of Pediatrics

Volumn 169, Issue 6, 2010, Pages 661-666

  Faiyaz Ul Haque, Muhammad ^a,b   Al Jefri, Abdullah ^a   Al Dayel, Fouad ^a   Bhuiyan, Jalaluddin A K M ^a   Abalkhail, Hala A ^a   Al Nounou, Randa ^a   Al Abdullatif, Ahmed ^a   Pulicat, Monogaran S ^a   Gaafar, Ameera ^a   Alaiya, Ayodele A ^a   Peltekova, Iskra ^c   Zaidi, Syed H E ^d  

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

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

^c QUEEN S UNIVERSITY   (Canada)

^d UNIVERSITY HEALTH NETWORK   (Canada)

Author keywords

HAX1 gene; Loss of mitochondrial membrane potential; Neurological manifestations; Neutrophil apoptosis; Nonsense mutation; Severe congenital neutropenia

Indexed keywords

CLONAZEPAM; GLUTAMINE; GRANULOCYTE COLONY STIMULATING FACTOR; HAX1 PROTEIN; HYDROGEN PEROXIDE; MITOCHONDRIAL PROTEIN; UNCLASSIFIED DRUG; VALPROIC ACID;

APOPTOSIS; ARAB; ARTICLE; ATONIC SEIZURE; CASE REPORT; CHILD; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; ETHNICITY; EXON; GENE SEQUENCE; GENETIC TRANSCRIPTION; HOMOZYGOSITY; HUMAN; HUMAN CELL; LEARNING DISORDER; MALE; MITOCHONDRIAL MEMBRANE POTENTIAL; NEUROLOGIC DISEASE; NEUTROPENIA; NEUTROPHIL; NONSENSE MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; SEVERE CONGENITAL NEUTROPENIA;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; APOPTOSIS; ARABS; CHILD; CODON, NONSENSE; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; EPILEPSY, GENERALIZED; HUMANS; MALE; MEMBRANE POTENTIAL, MITOCHONDRIAL; NEUTROPENIA; NEUTROPHILS; PEDIGREE; SAUDI ARABIA;

EID: 77952089943     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-010-1150-6     Document Type: Article

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