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A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles

Mkaouar-Rebai, Emna; Chamkha, Imen LU ; Kammoun, Thouraya; Chabchoub, Imen; Aloulou, Hajer; Fendri, Nourhene; Hachicha, Mongia and Fakhfakh, Faiza (2010) In Mitochondrion 10(5). p.55-449
Abstract

Kearns-Sayre syndrome is a mitochondrial disorder characterized by the emergence before the age of 20 years of progressive external ophthalmoplegia, pigmentary retinopathy, with other heterogeneous clinical manifestations. Generally, mitochondrial DNA deletions were associated with KSS but the size and position of these deletions differ among patients. This study reported a Tunisian patient with typical features of KSS. Long-range PCR amplification of the mtDNA in different tissues from this patient showed multiple mitochondrial deletions: two novel 9.768 and 7.253 kb deletions spanning respectively nucleotides 6124-15,893 and 8572-15,826 associated with the common 4.977 kb deletion.

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author
publishing date
type
Contribution to journal
publication status
published
keywords
Adolescent, Brain, DNA, Mitochondrial, Female, Hair Follicle, Humans, Kearns-Sayre Syndrome, Leukocytes, Magnetic Resonance Imaging, Mouth Mucosa, Sequence Deletion, Tunisia
in
Mitochondrion
volume
10
issue
5
pages
7 pages
publisher
Elsevier
external identifiers
  • scopus:77955426831
ISSN
1567-7249
DOI
10.1016/j.mito.2010.04.003
language
English
LU publication?
no
id
a583f61e-d169-48c6-a1ad-97d129c21034
date added to LUP
2016-09-14 13:44:25
date last changed
2017-01-15 04:41:16
@article{a583f61e-d169-48c6-a1ad-97d129c21034,
  abstract     = {<p>Kearns-Sayre syndrome is a mitochondrial disorder characterized by the emergence before the age of 20 years of progressive external ophthalmoplegia, pigmentary retinopathy, with other heterogeneous clinical manifestations. Generally, mitochondrial DNA deletions were associated with KSS but the size and position of these deletions differ among patients. This study reported a Tunisian patient with typical features of KSS. Long-range PCR amplification of the mtDNA in different tissues from this patient showed multiple mitochondrial deletions: two novel 9.768 and 7.253 kb deletions spanning respectively nucleotides 6124-15,893 and 8572-15,826 associated with the common 4.977 kb deletion.</p>},
  author       = {Mkaouar-Rebai, Emna and Chamkha, Imen and Kammoun, Thouraya and Chabchoub, Imen and Aloulou, Hajer and Fendri, Nourhene and Hachicha, Mongia and Fakhfakh, Faiza},
  issn         = {1567-7249},
  keyword      = {Adolescent,Brain,DNA, Mitochondrial,Female,Hair Follicle,Humans,Kearns-Sayre Syndrome,Leukocytes,Magnetic Resonance Imaging,Mouth Mucosa,Sequence Deletion,Tunisia},
  language     = {eng},
  number       = {5},
  pages        = {55--449},
  publisher    = {Elsevier},
  series       = {Mitochondrion},
  title        = {A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles},
  url          = {http://dx.doi.org/10.1016/j.mito.2010.04.003},
  volume       = {10},
  year         = {2010},
}