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A de novo mutation in the adenosine triphosphatase (ATPase) 8 gene in a patient with mitochondrial disorder

Mkaouar-Rebai, Emna; Kammoun, Fatma; Chamkha, Imen LU ; Kammoun, Nadège; Hsairi, Ines; Triki, Chahnez and Fakhfakh, Faiza (2010) In Journal of Child Neurology 25(6). p.5-770
Abstract

Mitochondrial DNA defects were known to be associated with a wide spectrum of human diseases and patients might present a wide range of clinical features in various combinations. In the current study, we described a patient with psychomotor and neurodevelopmental delay, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, leukodystrophy, and congenital deafness. He also had tetraplegia, with central blindness and swallowing difficulty. Brain magnetic resonance imaging (MRI) showed involvement of the interpeduncular nucleus and central tegmental tract, white matter abnormalities, and cerebellar atrophy. A whole mitochondrial genome screening revealed the presence of 19 reported polymorphisms and an... (More)

Mitochondrial DNA defects were known to be associated with a wide spectrum of human diseases and patients might present a wide range of clinical features in various combinations. In the current study, we described a patient with psychomotor and neurodevelopmental delay, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, leukodystrophy, and congenital deafness. He also had tetraplegia, with central blindness and swallowing difficulty. Brain magnetic resonance imaging (MRI) showed involvement of the interpeduncular nucleus and central tegmental tract, white matter abnormalities, and cerebellar atrophy. A whole mitochondrial genome screening revealed the presence of 19 reported polymorphisms and an undescribed A to G mutation at nucleotide 8411 (p.M16V) affecting a conserved region of the mitochondrial adenosine triphosphatase (ATPase) 8 protein. This de novo mutation was detected in heteroplasmic form (97%) and was absent in 120 controls. Thus, the m.8411A>G mutation could strongly be associated with the disease in the tested patient.

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author
publishing date
type
Contribution to journal
publication status
published
keywords
Brain, Child, DNA, Mitochondrial, Fatal Outcome, Hereditary Central Nervous System Demyelinating Diseases, Humans, Magnetic Resonance Imaging, Male, Mitochondrial Diseases, Mitochondrial Proton-Translocating ATPases, Mutation, Polymerase Chain Reaction
in
Journal of Child Neurology
volume
25
issue
6
pages
6 pages
publisher
SAGE Publications Inc.
external identifiers
  • Scopus:77952911626
ISSN
1708-8283
DOI
10.1177/0883073809344351
language
English
LU publication?
no
id
f84919b1-5f40-4637-a4bf-26cff94ecc76
date added to LUP
2016-09-14 13:45:17
date last changed
2016-10-13 05:13:31
@misc{f84919b1-5f40-4637-a4bf-26cff94ecc76,
  abstract     = {<p>Mitochondrial DNA defects were known to be associated with a wide spectrum of human diseases and patients might present a wide range of clinical features in various combinations. In the current study, we described a patient with psychomotor and neurodevelopmental delay, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, leukodystrophy, and congenital deafness. He also had tetraplegia, with central blindness and swallowing difficulty. Brain magnetic resonance imaging (MRI) showed involvement of the interpeduncular nucleus and central tegmental tract, white matter abnormalities, and cerebellar atrophy. A whole mitochondrial genome screening revealed the presence of 19 reported polymorphisms and an undescribed A to G mutation at nucleotide 8411 (p.M16V) affecting a conserved region of the mitochondrial adenosine triphosphatase (ATPase) 8 protein. This de novo mutation was detected in heteroplasmic form (97%) and was absent in 120 controls. Thus, the m.8411A&gt;G mutation could strongly be associated with the disease in the tested patient.</p>},
  author       = {Mkaouar-Rebai, Emna and Kammoun, Fatma and Chamkha, Imen and Kammoun, Nadège and Hsairi, Ines and Triki, Chahnez and Fakhfakh, Faiza},
  issn         = {1708-8283},
  keyword      = {Brain,Child,DNA, Mitochondrial,Fatal Outcome,Hereditary Central Nervous System Demyelinating Diseases,Humans,Magnetic Resonance Imaging,Male,Mitochondrial Diseases,Mitochondrial Proton-Translocating ATPases,Mutation,Polymerase Chain Reaction},
  language     = {eng},
  number       = {6},
  pages        = {5--770},
  publisher    = {ARRAY(0x7fb3c40)},
  series       = {Journal of Child Neurology},
  title        = {A de novo mutation in the adenosine triphosphatase (ATPase) 8 gene in a patient with mitochondrial disorder},
  url          = {http://dx.doi.org/10.1177/0883073809344351},
  volume       = {25},
  year         = {2010},
}