title: A novel 7301-bp deletion in mitochondrial DNA in a patient with Kearns-Sayre syndrome, diabetes mellitus, and primary amenorrhoea.
abstract: We report a 27-year-old woman with a form of mitochondrial myopathy including chronic progressive external opthalmoplegia, retinal pigmentary dystrophy, cerebellar ataxia, and cardiac conduction block (Kearns-Sayre syndrome). At age 13 years a cardiac pacemaker was implanted. She also had sensineural hearing loss, delayed puberty, and primary amenorrhoea. She was weelchair-bound since the age of 20 years. At age 27, insulin-dependent diabetes mellitus and osteoporosis were diagnosed. Insulin treatment was started and associated endocrinopathies were investigated. DNA analysis identified a novel 7301-bp deletion in mitochondrial DNA, ranging from position 6530 to 13 831 corroborating the diagnosis of Kearns-Sayre syndrome.
authors.affiliation: Department of Endocrinology-Diabetology, University Hospital of Antwerp, Edegem, Belgium. christophe.deblock@ua.ac.be
authors.forename: C E M
authors.initials: CE
authors.lastname: De Block
authors.forename: I H
authors.initials: IH
authors.lastname: De Leeuw
authors.forename: J A
authors.initials: JA
authors.lastname: Maassen
authors.forename: D
authors.initials: D
authors.lastname: Ballaux
authors.forename: J-J
authors.initials: JJ
authors.lastname: Martin
mesh_terms: D000568:Amenorrhea / Q000150:complications*; D020029:Base Pairing; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000150:complications* / Q000188:drug therapy; D005260:Female; D017353:Gene Deletion; D006319:Hearing Loss, Sensorineural / Q000150:complications; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007328:Insulin / Q000627:therapeutic use; D007625:Kearns-Sayre Syndrome / Q000150:complications* / Q000235:genetics*; D010024:Osteoporosis / Q000150:complications; D011628:Puberty, Delayed / Q000150:complications
chemical_list: D004272:DNA, Mitochondrial; D007004:Hypoglycemic Agents; D007328:Insulin