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.
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.
authors.affiliation: Human Molecular Genetic Laboratory, Faculty of Medicine of Sfax, Tunisia. emna_mkaouar@mail2world.com
authors.forename: Emna
authors.initials: E
authors.lastname: Mkaouar-Rebai
authors.forename: Imen
authors.initials: I
authors.lastname: Chamkha
authors.forename: Thouraya
authors.initials: T
authors.lastname: Kammoun
authors.forename: Imen
authors.initials: I
authors.lastname: Chabchoub
authors.forename: Hajer
authors.initials: H
authors.lastname: Aloulou
authors.forename: Nourhene
authors.initials: N
authors.lastname: Fendri
authors.forename: Mongia
authors.initials: M
authors.lastname: Hachicha
authors.forename: Faiza
authors.initials: F
authors.lastname: Fakhfakh
mesh_terms: D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D018859:Hair Follicle / Q000473:pathology*; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D007962:Leukocytes / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D009061:Mouth Mucosa / Q000473:pathology*; D011859:Radiography; D017384:Sequence Deletion; D014416:Tunisia
chemical_list: D004272:DNA, Mitochondrial