De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain

Journal of Human Genetics

Volumn 59, Issue 5, 2014, Pages 292-295

  Ohba, Chihiro ^a,b   Nabatame, Shin ^c   Iijima, Yoshitaka ^d   Nishiyama, Kiyomi ^a   Tsurusaki, Yoshinori ^a   Nakashima, Mitsuko ^a   Miyake, Noriko ^a   Tanaka, Fumiaki ^b   Ozono, Keiichi ^c   Saitsu, Hirotomo ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

^c OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d Osaka Developmental Rehabilitation Center   (Japan)

Author keywords

neurodegeneration with brain iron accumulation; Rett syndrome; static encephalopathy of childhood with neurodegeneration in adulthood; WDR45; Propeller protein associated neurodegeneration (BPAN)

Indexed keywords

ANTICONVULSIVE AGENT; CARBAMAZEPINE; IRON; METHYL CPG BINDING PROTEIN 2; CARRIER PROTEIN; WDR45 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; CASE REPORT; CHILDHOOD DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL GENE; EPILEPSY; FEMALE; GENE MUTATION; GENE SEQUENCE; GLOBUS PALLIDUS; HUMAN; LYMPHOBLASTOID CELL LINE; MALE; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; RETT SYNDROME; SPLICING DEFECT; SUBSTANTIA NIGRA; WDR45 GENE; ALLELE; ALTERNATIVE RNA SPLICING; BRAIN; EXOME; GENETICS; HIGH THROUGHPUT SEQUENCING; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ADOLESCENT; ALLELES; ALTERNATIVE SPLICING; BRAIN; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IRON; MAGNETIC RESONANCE IMAGING; MUTATION; RETT SYNDROME;

EID: 84901458851     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.18     Document Type: Article

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