Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation

Filippo M. Santorelli, Kurenai Tanji, Sara Shanske, Salvatore DiMauro

Research output: Contribution to journalArticle

44 Citations (Scopus)

Abstract

To obtain a better molecular definition of patients with syndromic retinitis pigmentosa, we screened for mitochondrial DNA (mtDNA) alterations of the two ATPase genes and 22 tRNA-coding sequences in 10 patients whose features resembled NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. In two patients, one of whom showed features mimicking Kearns- Sayre syndrome, we identified a heteroplasmic T8993G mutation (average 80%) in the mitochondrial ATPase 6 gene. There was no mutated mtDNA in muscle and leukocytes from the mother of one patient or in leukocytes from his brother, suggesting a rapid segregation of the mutated nucleotide. MtDNA analysis should be considered in the differential diagnosis of patients with syndromic retinitis pigmentosa.

Original languageEnglish
Pages (from-to)270-273
Number of pages4
JournalNeurology
Volume49
Issue number1
Publication statusPublished - Jul 1997

Fingerprint

Mitochondrial DNA
Mutation
Retinitis Pigmentosa
Adenosine Triphosphatases
Leukocytes
Kearns-Sayre Syndrome
Transfer RNA
Genes
Siblings
Differential Diagnosis
Nucleotides
Mothers
Neuropathy ataxia and retinitis pigmentosa
Muscles

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Santorelli, F. M., Tanji, K., Shanske, S., & DiMauro, S. (1997). Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation. Neurology, 49(1), 270-273.

Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation. / Santorelli, Filippo M.; Tanji, Kurenai; Shanske, Sara; DiMauro, Salvatore.

In: Neurology, Vol. 49, No. 1, 07.1997, p. 270-273.

Research output: Contribution to journalArticle

Santorelli, FM, Tanji, K, Shanske, S & DiMauro, S 1997, 'Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation', Neurology, vol. 49, no. 1, pp. 270-273.
Santorelli FM, Tanji K, Shanske S, DiMauro S. Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation. Neurology. 1997 Jul;49(1):270-273.
Santorelli, Filippo M. ; Tanji, Kurenai ; Shanske, Sara ; DiMauro, Salvatore. / Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation. In: Neurology. 1997 ; Vol. 49, No. 1. pp. 270-273.
@article{d104a388f66f43049e4fcf52f7073615,
title = "Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation",
abstract = "To obtain a better molecular definition of patients with syndromic retinitis pigmentosa, we screened for mitochondrial DNA (mtDNA) alterations of the two ATPase genes and 22 tRNA-coding sequences in 10 patients whose features resembled NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. In two patients, one of whom showed features mimicking Kearns- Sayre syndrome, we identified a heteroplasmic T8993G mutation (average 80{\%}) in the mitochondrial ATPase 6 gene. There was no mutated mtDNA in muscle and leukocytes from the mother of one patient or in leukocytes from his brother, suggesting a rapid segregation of the mutated nucleotide. MtDNA analysis should be considered in the differential diagnosis of patients with syndromic retinitis pigmentosa.",
author = "Santorelli, {Filippo M.} and Kurenai Tanji and Sara Shanske and Salvatore DiMauro",
year = "1997",
month = "7",
language = "English",
volume = "49",
pages = "270--273",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "1",

}

TY - JOUR

T1 - Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation

AU - Santorelli, Filippo M.

AU - Tanji, Kurenai

AU - Shanske, Sara

AU - DiMauro, Salvatore

PY - 1997/7

Y1 - 1997/7

N2 - To obtain a better molecular definition of patients with syndromic retinitis pigmentosa, we screened for mitochondrial DNA (mtDNA) alterations of the two ATPase genes and 22 tRNA-coding sequences in 10 patients whose features resembled NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. In two patients, one of whom showed features mimicking Kearns- Sayre syndrome, we identified a heteroplasmic T8993G mutation (average 80%) in the mitochondrial ATPase 6 gene. There was no mutated mtDNA in muscle and leukocytes from the mother of one patient or in leukocytes from his brother, suggesting a rapid segregation of the mutated nucleotide. MtDNA analysis should be considered in the differential diagnosis of patients with syndromic retinitis pigmentosa.

AB - To obtain a better molecular definition of patients with syndromic retinitis pigmentosa, we screened for mitochondrial DNA (mtDNA) alterations of the two ATPase genes and 22 tRNA-coding sequences in 10 patients whose features resembled NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. In two patients, one of whom showed features mimicking Kearns- Sayre syndrome, we identified a heteroplasmic T8993G mutation (average 80%) in the mitochondrial ATPase 6 gene. There was no mutated mtDNA in muscle and leukocytes from the mother of one patient or in leukocytes from his brother, suggesting a rapid segregation of the mutated nucleotide. MtDNA analysis should be considered in the differential diagnosis of patients with syndromic retinitis pigmentosa.

UR - http://www.scopus.com/inward/record.url?scp=0030818636&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030818636&partnerID=8YFLogxK

M3 - Article

C2 - 9222207

AN - SCOPUS:0030818636

VL - 49

SP - 270

EP - 273

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 1

ER -