Complex genetic counselling and prenatal analysis in a woman with external ophthalmoplegia and deleted mtDNA

Caroline Graff, Anna Wredenberg, José P. Silva, The Hung Bui, Kristian Borg, Nils Göran Larsson

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Single large mitochondrial DNA deletions (ΔmtDNA) are usually spontaneously occurring and cause a wide variety of symptoms, ranging from severe infantile multisystem disorders to adult onset progressive external ophthalmoplegia (PEO). There is always heteroplasmy with a mixture or normal and mutant mtDNA and the levels usually vary widely between tissues. There is at present insufficient scientific basis for accurate genetic counselling of women with ΔmtDNA, but it is reasonable to assume that ΔmtDNA can be transmitted if it is present in the female germ cells. Here, we present the results of prenatal analysis in a woman with ΔmtDNA and PEO. No ΔmtDNA was detected by Southern blot and PCR analyses of chorionic villi from the first trimester of pregnancy, in cord blood obtained at birth or in peripheral blood from the child at six months of age. This makes it unlikely that the child will develop a severe infantile mitochondrial disorder due to transmission of high levels of ΔmtDNA. However, the complex mitochondrial genetics and the limited access to human tissues makes it impossible to exclude transmission of low levels of ΔmtDNA that possibly could cause disease later in life. Copyright (C) 2000 John Wiley and Sons, Ltd.

Original languageEnglish
Pages (from-to)426-431
Number of pages6
JournalPrenatal Diagnosis
Volume20
Issue number5
DOIs
StatePublished - May 25 2000
Externally publishedYes

Fingerprint

Ophthalmoplegia
Genetic Counseling
Mitochondrial DNA
Chronic Progressive External Ophthalmoplegia
Chorionic Villi
Mitochondrial Diseases
First Pregnancy Trimester
Southern Blotting
Fetal Blood
Germ Cells
Parturition
Polymerase Chain Reaction

Keywords

  • Deletion
  • Genetic counselling
  • Mitochondrial DNA
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynecology

Cite this

Complex genetic counselling and prenatal analysis in a woman with external ophthalmoplegia and deleted mtDNA. / Graff, Caroline; Wredenberg, Anna; Silva, José P.; Bui, The Hung; Borg, Kristian; Larsson, Nils Göran.

In: Prenatal Diagnosis, Vol. 20, No. 5, 25.05.2000, p. 426-431.

Research output: Contribution to journalArticle

Graff, Caroline ; Wredenberg, Anna ; Silva, José P. ; Bui, The Hung ; Borg, Kristian ; Larsson, Nils Göran. / Complex genetic counselling and prenatal analysis in a woman with external ophthalmoplegia and deleted mtDNA. In: Prenatal Diagnosis. 2000 ; Vol. 20, No. 5. pp. 426-431.
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