January 2020 — Laboratory Genetics and Genomics

A 19 year old female with a complex phenotype suggestive of a mitochondrial disorder had mitochondrial DNA sequencing performed three times at an outside institution, all with inconclusive results due to “multiple heteroplasmic positions”. Mitochondrial genome sequencing was performed here revealing 6 benign homoplasmic and 21 benign variants at 10-20% heteroplasmy. When variants are stratified by frequency, this patient appears to have two distinct haplogroups (Figs A-B). Normally individuals have only one haplogroup, which is maternally inherited.

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Photo of Jaime L. Lopes, Ph.D. Jaime Lopes, Ph.D.
Fellow, Laboratory Genetics and Genomics
Mayo Clinic
Photo of Jaime Lopes, Ph.D. Fellow, Laboratory Genetics and Genomics Mayo Clinic Linda Hasadsri, M.D., Ph.D. Linda Hasadsri, M.D., Ph.D.
Consultant, Laboratory Genetics and Genomics
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science
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This post was developed by our Education and Technical Publications Team.