title: Phylogenetic analysis of mitochondrial DNA in a patient with Kearns-Sayre syndrome containing a novel 7629-bp deletion.
abstract: Mitochondrial DNA mutations have been associated with different illnesses in humans, such as Kearns-Sayre syndrome (KSS), which is related to deletions of different sizes and positions among patients. Here, we report a Mexican patient with typical features of KSS containing a novel deletion of 7629 bp in size with 85% heteroplasmy, which has not been previously reported. Sequence analysis revealed 3-bp perfect short direct repeats flanking the deletion region, in addition to 7-bp imperfect direct repeats within 9-10 bp. Furthermore, sequencing, alignment and phylogenetic analysis of the hypervariable region revealed that the patient may belong to a founder Native American haplogroup C4c.
authors: Department of Biochemistry and Molecular and Cellular Biology, Universidad de Zaragoza, CIBER de Enfermedades Raras, Zaragoza, Spain.
authors: Jose Francisco
authors: JF
authors: Montiel-Sosa
authors: María Dolores
authors: MD
authors: Herrero
authors: Maria de Lourdes
authors: Mde L
authors: Munoz
authors: Luis Enrique
authors: LE
authors: Aguirre-Campa
authors: Gerardo
authors: G
authors: Pérez-Ramírez
authors: Rubén
authors: R
authors: García-Ramírez
authors: Eduardo
authors: E
authors: Ruiz-Pesini
authors: Julio
authors: J
authors: Montoya
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D017931:DNA Primers / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D050259:Genes, Mitochondrial / Q000235:genetics*; D006801:Humans; D007198:Indians, North American / Q000235:genetics*; D007625:Kearns-Sayre Syndrome / Q000235:genetics* / Q000473:pathology; D016013:Likelihood Functions; D008800:Mexico; D008957:Models, Genetic; D008969:Molecular Sequence Data; D010802:Phylogeny; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial