Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion
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- 作者：Ashlee R. Stilesa ; b ; 1 ; Mariella T. Simonc ; d ; 1 ; Alexander Stoverc ; Shaya Eftekharianc ; Negar Khanloua ; Hanlin L. Wanga ; Shino Magakia ; Hane Leea ; b ; Kate Partynskic ; Nagmeh Dorranie ; Richard Changc ; Julian A. Martinez-Agostob ; e ; f ; Jose E. Abdenurc ; g ; jabdenur@choc.org" class="auth_mail" title="E-mail the corresponding author
- 关键词：TFAM mutation ; mtDNA depletion syndrome ; Liver failure ; Newborn screening ; Mitochondrial disease
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：September-October 2016
- 年：2016
- 卷：119
- 期：1-2
- 页码：91-99
- 全文大小：1533 K
文摘
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Two siblings with TFAM deficiency, a novel hepatocerebral mtDNA depletion syndrome
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Major manifestations were IUGR, hypoglycemia and rapidly progressive liver failure.
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Both patients had abnormal newborn screening with elevated methionine or tyrosine.
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Exome sequencing uncovered a homozygous variant in TFAM in affected siblings.
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Tissue studies show mtDNA depletion, decreased nucleoids and TFAM protein expression.