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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.
- Source :
-
Gene [Gene] 2012 Sep 01; Vol. 505 (2), pp. 269-75. Date of Electronic Publication: 2012 Jun 15. - Publication Year :
- 2012
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Abstract
- Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disease caused by the dysfunction of citrin, an aspartate/glutamate carrier encoded by the SLC25A13 gene. Considerable progress has been made on the diagnosis and treatment of NICCD, but its clinical and molecular features still remain far from being completely elucidated and generally understood. The infant, a preterm female delivered at a gestational age of 31 weeks, was referred to our hospital at the age of 8 months because of jaundice lasting for 4.5 months and ovarian masses uncovered for 3 months. Besides 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 the largest size being 7.4 × 6.2 × 9.6 mm(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 a carrier rate of less than 1%. SLC25A13 transcriptional study in peripheral blood lymphocytes (PBLs) documented a novel splice variant r.616&#95;848del which resulted from c.754G>A, with another variant r.1019&#95;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 a galactose-free and medium chain triglyceride (MCT)-enriched formula. The findings in this paper expanded the clinical and molecular spectrum of the SLC25A13 gene, and lent support to the concept that PBLs could be taken as a feasible specimen source for SLC25A13 transcriptional analysis.<br /> (Copyright © 2012 Elsevier B.V. All rights reserved.)
- Subjects :
- Citrullinemia blood
Citrullinemia diagnosis
Citrullinemia diet therapy
Estradiol blood
Female
Follicle Stimulating Hormone blood
Humans
Infant, Newborn
Infant, Premature
Luteinizing Hormone blood
Lymphocytes metabolism
Magnetic Resonance Imaging
Mutation
Ovarian Cysts blood
Ovarian Cysts diagnosis
Ovarian Cysts diet therapy
Ovarian Cysts genetics
Ovarian Cysts metabolism
Transcription, Genetic
Treatment Outcome
Triglycerides therapeutic use
Calcium-Binding Proteins genetics
Citrullinemia genetics
Citrullinemia metabolism
Organic Anion Transporters genetics
Ovarian Follicle physiopathology
Subjects
Details
- Language :
- English
- ISSN :
- 1879-0038
- Volume :
- 505
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Gene
- Publication Type :
- Academic Journal
- Accession number :
- 22710133
- Full Text :
- https://doi.org/10.1016/j.gene.2012.06.012