Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy

Carla Carducci; Vincenzo Leuzzi; Massimo Scuderi; Anna Maria De Negri; Corrado Balacco Gabrieli; Italo Antonozzi; Alfredo Pontecorvi

doi:10.1007/BF00201733

Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy

Carla Carducci
, Vincenzo Leuzzi
, Massimo Scuderi
, Anna Maria De Negri
, Corrado Balacco Gabrieli
, Italo Antonozzi
, Alfredo Pontecorvi

University of Rome La Sapienza

Research output: Contribution to journal › Article

7 Citations (Scopus)

Abstract

Mitochondrial (mt) DNA from a Southern Italian family with Leber hereditary optic neuropathy was analyzed for the presence of the reported mutation at position 11778 of the ND4 subunit gene. The point mutation was found in mt DNA extracted from peripheral blood in all members of the family with the exclusion of the father, and was present in a homoplasmic fashion, despite the phenotypic heterogeneity of disease presentation among family members.

Original language	English
Pages (from-to)	725-727
Number of pages	3
Journal	Human Genetics
Volume	87
DOIs	https://doi.org/10.1007/BF00201733
Publication status	Published - 1991

Keywords

Adolescent
Adult
Base Sequence
DNA, Mitochondrial
Female
Humans
Italy
Male
Molecular Sequence Data
Mutation
Optic Atrophies, Hereditary
Pedigree
Polymerase Chain Reaction

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10.1007/BF00201733

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title = "Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy",

abstract = "Mitochondrial (mt) DNA from a Southern Italian family with Leber hereditary optic neuropathy was analyzed for the presence of the reported mutation at position 11778 of the ND4 subunit gene. The point mutation was found in mt DNA extracted from peripheral blood in all members of the family with the exclusion of the father, and was present in a homoplasmic fashion, despite the phenotypic heterogeneity of disease presentation among family members.",

keywords = "Adolescent, Adult, Base Sequence, DNA, Mitochondrial, Female, Humans, Italy, Male, Molecular Sequence Data, Mutation, Optic Atrophies, Hereditary, Pedigree, Polymerase Chain Reaction, Adolescent, Adult, Base Sequence, DNA, Mitochondrial, Female, Humans, Italy, Male, Molecular Sequence Data, Mutation, Optic Atrophies, Hereditary, Pedigree, Polymerase Chain Reaction",

author = "Carla Carducci and Vincenzo Leuzzi and Massimo Scuderi and \{De Negri\}, \{Anna Maria\} and Gabrieli, \{Corrado Balacco\} and Italo Antonozzi and Alfredo Pontecorvi",

year = "1991",

doi = "10.1007/BF00201733",

language = "English",

volume = "87",

pages = "725--727",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer Science and Business Media Deutschland GmbH",

}

TY - JOUR

T1 - Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy

AU - Carducci, Carla

AU - Leuzzi, Vincenzo

AU - Scuderi, Massimo

AU - De Negri, Anna Maria

AU - Gabrieli, Corrado Balacco

AU - Antonozzi, Italo

AU - Pontecorvi, Alfredo

PY - 1991

Y1 - 1991

N2 - Mitochondrial (mt) DNA from a Southern Italian family with Leber hereditary optic neuropathy was analyzed for the presence of the reported mutation at position 11778 of the ND4 subunit gene. The point mutation was found in mt DNA extracted from peripheral blood in all members of the family with the exclusion of the father, and was present in a homoplasmic fashion, despite the phenotypic heterogeneity of disease presentation among family members.

AB - Mitochondrial (mt) DNA from a Southern Italian family with Leber hereditary optic neuropathy was analyzed for the presence of the reported mutation at position 11778 of the ND4 subunit gene. The point mutation was found in mt DNA extracted from peripheral blood in all members of the family with the exclusion of the father, and was present in a homoplasmic fashion, despite the phenotypic heterogeneity of disease presentation among family members.

KW - Adolescent

KW - Adult

KW - Base Sequence

KW - DNA, Mitochondrial

KW - Female

KW - Humans

KW - Italy

KW - Male

KW - Molecular Sequence Data

KW - Mutation

KW - Optic Atrophies, Hereditary

KW - Pedigree

KW - Polymerase Chain Reaction

KW - Adolescent

KW - Adult

KW - Base Sequence

KW - DNA, Mitochondrial

KW - Female

KW - Humans

KW - Italy

KW - Male

KW - Molecular Sequence Data

KW - Mutation

KW - Optic Atrophies, Hereditary

KW - Pedigree

KW - Polymerase Chain Reaction

UR - http://hdl.handle.net/10807/13039

U2 - 10.1007/BF00201733

DO - 10.1007/BF00201733

M3 - Article

SN - 0340-6717

VL - 87

SP - 725

EP - 727

JO - Human Genetics

JF - Human Genetics

ER -

Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy

Abstract

Keywords

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