BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency-Reference-Cited by-同舟云学术

BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency

Published:2012-03 Issue:2 Volume:49 Page:201-203
ISSN:0004-5632
Container-title:Annals of Clinical Biochemistry: International Journal of Laboratory Medicine
language:en
Short-container-title:Ann Clin Biochem

Author:

Lynn Adrienne M¹,King Richard I²,Mackay Richard J²,Florkowski Chris M²,Wilson Callum J³

Affiliation:

1. Neonatal Services, Christchurch Women's Hospital

2. Canterbury Health Laboratories, Christchurch 8011

3. Metabolic Service, Starship Children's Hospital, Auckland 1010, New Zealand

Abstract

The clinical presentation of a neonate with GRACILE-like syndrome, complex III deficiency and BCS1L mutations is discussed. This case is compared and contrasted with the original Finnish reports of GRACILE syndrome and other cases with a similar phenotype. This case confirms the pathogenicity of the BCS1L gene mutation c.166C>T, and provides support for the pathogenicity of a sequence variation, c.−588T>A, previously reported.

Publisher

SAGE Publications

Subject

Clinical Biochemistry,General Medicine

Link

http://journals.sagepub.com/doi/pdf/10.1258/acb.2011.011180

Reference9 articles.

1. GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L

2. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain

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4. Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in theBCS1Lgene

5. Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria

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