A novel homozygous mutation of DARS2 may cause a severe LBSL variant

Clinical Genetics

Volumn 80, Issue 3, 2011, Pages 293-296

  Miyake, N ^a   Yamashita, S ^b   Kurosawa, K ^b   Miyatake, S ^a   Tsurusaki, Y ^a   Doi, H ^a   Saitsu, H ^a   Matsumoto, N ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

LACTIC ACID;

ATAXIA; AUTOSOMAL RECESSIVE DISORDER; BRAIN STEM; CASE REPORT; CHILD; CHROMOSOME 1Q; CONSANGUINITY; DARS2 GENE; EXON; GAIT DISORDER; GENE; GENE MAPPING; GENE MUTATION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; LACTATE BLOOD LEVEL; LETTER; LEUKOENCEPHALOPATHY; LINKAGE ANALYSIS; MENTAL DEFICIENCY; NYSTAGMUS; PRIORITY JOURNAL; RESPIRATORY FAILURE; SLURRED SPEECH; SPINAL CORD DISEASE;

AGE OF ONSET; ASPARTATE-TRNA LIGASE; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 1; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; GENETIC LINKAGE; HAPLOTYPES; HOMOZYGOTE; HUMANS; JAPAN; LACTIC ACID; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MITOCHONDRIA; MUTATION; POSTERIOR LEUKOENCEPHALOPATHY SYNDROME;

EID: 79961111475     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01644.x     Document Type: Letter

References (6)

1. van der Knaap MS, van der Voorn P, Barkhof F et al. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol 2003: 53: 252-258.
2. Scheper GC, van der Klok T, van Andel RJ et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 2007: 39: 534-539.
3. Uluc K, Baskan O, Yildirim KA et al. Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings. J Neurol Sci 2008: 273: 118-122.
4. Isohanni P, Linnankivi T, Buzkova J et al. DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis. J Med Genet 2010: 47: 66-70.
5. Lin J, Faria EC, Da Rocha AJ et al. Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene. J Child Neurol 2010: 25: 1425-1428.
6. Miyake N, Kosho T, Mizumoto S et al. Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum Mutat 2010: 31: 966-974.