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Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.

Abstract：

:Mitochondrial genetics is complicated by heteroplasmy, or mutant load, which may be from 1%-99%, and thus may produce a gene dosage-type effect. Limited data are available for genotype/phenotype correlations in disorders caused by mtDNA mutations; therefore, prenatal diagnosis for mtDNA mutations has been hindered by an inability to predict accurately the clinical severity expected from a mutant load measured in fetal tissue. After reviewing 44 published and 12 unpublished pedigrees, we considered the possibility of prenatal diagnosis for two common mtDNA mutations at nucleotide 8993. We related the severity of symptoms to the mutant load and predicted the clinical outcome of a given mutant load. We also used the available data to generate empirical recurrence risks for genetic counseling, which may be used in conjunction with prenatal diagnosis.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

White SL,Collins VR,Wolfe R,Cleary MA,Shanske S,DiMauro S,Dahl HH,Thorburn DR

doi

10.1086/302488

subject

Has Abstract

pub_date

1999-08-01 00:00:00

pages

474-82

issue

2

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)62064-3

journal_volume

65

pub_type

杂志文章

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