Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion

Clinical Genetics

Volumn 81, Issue 6, 2012, Pages 602-604

  Allen, N M ^a   O'hIci, B ^b   Anderson, G ^c   Nestor, T ^a   Ann Lynch, S ^b   King, M D ^a  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANAMNESIS; CASE REPORT; CHILD; CHROMOSOME 8P; CHROMOSOME 8P23; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; CLN8 GENE; ELECTROCARDIOGRAM; ELECTROENCEPHALOGRAM; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; ELECTRORETINOGRAM; EVOKED VISUAL RESPONSE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; LABORATORY TEST; LETTER; MALE; NEUROIMAGING; NEURONAL CEROID LIPOFUSCINOSIS; NEURONAL CEROID LIPOFUSCINOSIS LATE INFANTILE TYPE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN BIOPSY;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 8; HETEROZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES;

EID: 84860580995     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01777.x     Document Type: Letter

References (4)

1. Hirvasniemi A, Lang H, Lehesjoki AE et al. Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration. J Med Genet 1994: 31: 177-182.
2. Vantaggiato C, Redaelli F, Falcone S et al. A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. Hum Mutat 2009: 30: 1104-1116.
3. Reinhardt K, Grapp M, Schlachter K et al. Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. Clin Genet 2010: 77: 79-85.
4. Zelnik N, Mahajna M, Iancu TC et al. A novel mutation of the CLN8 gene: is there a Mediterranean phenotype? Pediatr Neurol 2007: 36: 411-413.