Literature DB >> 8095070

Maternally inherited Leigh syndrome.

E Ciafaloni1, F M Santorelli, S Shanske, T Deonna, E Roulet, C Janzer, G Pescia, S DiMauro.   

Abstract

A 6 1/2-year-old girl had developmental regression, and Leigh syndrome was diagnosed. A second girl born to the same mother after heterologous artificial insemination also lost acquired skills and died at 2 1/2 years of age; neuropathologic examination confirmed the diagnosis of Leigh syndrome. Tissues from both children and from the mother had a point mutation at nucleotide 8993 in the adenosinetriphosphatase 6-gene of mitochondrial DNA. This family illustrates that Leigh syndrome can be transmitted by maternal inheritance.

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Year:  1993        PMID： 8095070     DOI： 10.1016/s0022-3476(05)83431-6

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  20 in total

1.  Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.

Authors:  S L White; V R Collins; R Wolfe; M A Cleary; S Shanske; S DiMauro; H H Dahl; D R Thorburn
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

2.  Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.

Authors:  S L White; S Shanske; J J McGill; H Mountain; M T Geraghty; S DiMauro; H H Dahl; D R Thorburn
Journal:  J Inherit Metab Dis       Date:  1999-12       Impact factor: 4.982

3.  Mitochondrial DNA 11777C>A mutation associated Leigh syndrome: case report with a review of the previously described pedigrees.

Authors:  Kinga Hadzsiev; Anita Maasz; Peter Kisfali; Endre Kalman; Eva Gomori; Endre Pal; Ervin Berenyi; Katalin Komlosi; Bela Melegh
Journal:  Neuromolecular Med       Date:  2010-05-26       Impact factor: 3.843

4.  De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring.

Authors:  M H Tulinius; M Houshmand; N G Larsson; E Holme; A Oldfors; E Holmberg; J Wahlström
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

5.  Different restriction fragment pattern of mtDNA indicative of generalized 8993 point mutations in a boy with lactic acidosis.

Authors:  P Klement; J Zeman; H Hansikova; H Houstkova; M Baudysova; J Houstek
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

6.  A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues.

Authors:  F Degoul; D François; M Diry; G Ponsot; I Desguerre; B Héron; C Marsac; M L Moutard
Journal:  J Inherit Metab Dis       Date:  1997-03       Impact factor: 4.982

7.  Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation.

Authors:  F Degoul; M Diry; D Rodriguez; O Robain; D Francois; G Ponsot; C Marsac; I Desguerre
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

8.  Clinical and laboratory findings in referrals for mitochondrial DNA analysis.

Authors:  P J Lamont; R Surtees; C E Woodward; J V Leonard; N W Wood; A E Harding
Journal:  Arch Dis Child       Date:  1998-07       Impact factor: 3.791

9.  Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice.

Authors:  Annelien Bredenoord; Wybo Dondorp; Guido Pennings; Christine de Die-Smulders; Bert Smeets; Guido de Wert
Journal:  Eur J Hum Genet       Date:  2009-05-27       Impact factor: 4.246

10.  Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.

Authors:  Martine Uittenbogaard; Christine A Brantner; ZiShui Fang; Lee-Jun C Wong; Andrea Gropman; Anne Chiaramello
Journal:  Mol Genet Metab       Date:  2018-03-27       Impact factor: 4.797
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