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Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: A clinical, genetic and transcriptional analysis.
MedLine Citation:
PMID:  22710133     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Neonatal Intrahepatic Cholestasis caused by Citrin Defieincy (NICCD) is an autosomal recessive disease caused by dysfunction of citrin, an aspartate/glutamate carrier encoded by SLC25A13 gene. Considerable progress has been made on the diagnosis and treatment of NICCD, but its clinical and molecular features still remain far from completely elucidated and generally understood. The infant, a preterm female delivered at gestational age of 31weeks, was referred to our hospital at her age of 8months because of jaundice lasting for 4.5months and ovarian masses uncovered for 3months. Beside serum indices indicating cholestasis, elevated serum levels of luteinizing hormone, follicle stimulating hormone and estradiol were also detected. Abdominal magnetic resonance imaging demonstrated bilateral multi-cystic ovarian masses, with largest size 7.4×6.2×9.6mm(3). SLC25A13 gene analysis revealed that the patient was a compound heterozygote of c.1177+1G>A and c.754G>A. The paternally inherited mutation c.754G>A was a novel one with carrier rate less than 1%. SLC25A13 transcriptional study in peripheral blood lymphocytes (PBLs) documented a novel splice variant r.616_848del resulted from c.754G>A, with another variant r.1019_1177del from the maternally inherited c.1177+1G>A mutation. The diagnoses were NICCD and multiple ovarian antral follicles (minipuberty), and the patient responded well to galactose-free and medium chain triglycerides (MCT)-enriched formula. The findings in this paper expanded the clinical and molecular spectrum of SLC25A13 gene, and lent support to the concept that PBLs could be taken as a feasible specimen source for SLC25A13 transcriptional analysis.
Authors:
Wei-Xia Lin; Zhan-Hui Zhang; Mei Deng; Xiang-Ran Cai; Yuan-Zong Song
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-6-15
Journal Detail:
Title:  Gene     Volume:  -     ISSN:  1879-0038     ISO Abbreviation:  -     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-6-19     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7706761     Medline TA:  Gene     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012. Published by Elsevier B.V.
Affiliation:
Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China.
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