Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation

Journal Article · Fri Mar 01 04:00:00 EST 1996 · American Journal of Human Genetics

OSTI ID:381290

De Coo, I F.M.; Smeets, H J.M.; Oost, B.A. van ^[1]

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1. and others

Neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) and subacute necrotizing encephalomyelopathy (Leigh disease) are both associated with an alteration of nt 8993 in the mitochondrial ATPase 6 gene. In NARP, the T-to-G transversion at that position changes leucine into arginine. In Leigh syndrome, the same mutation can be found, as can a T-to-C transition, which changes this leucine into proline. Clinical manifestations occur for NARP when {approximately}60%-90% mutated mtDNA is present. In case of Leigh, these percentages usually exceed 95%. It is known that this mutation can segregate very rapidly within pedigrees. Here we report on a sporadic case with mental retardation and ataxia without retinitis pigmentosa in which the T8993G mutation was found. 13 refs., 1 fig.

• OSTI ID: 381290
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 3 Vol. 58; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINO ACIDS
GENE MUTATIONS
GENES
GENETICS
HEREDITARY DISEASES
MENTAL DISORDERS
MITOCHONDRIA
MUTATIONS
NERVOUS SYSTEM DISEASES
NUCLEOTIDES
PATIENTS
POLYMERASE CHAIN REACTION
SENSE ORGANS DISEASES