Clinical and genetic analysis for congenital disturbance of glycosylation with MPI gene mutation

  • 曾敬清,蒋丽蓉,王剑,等
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  • Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University, Shanghai 200127,China

Online published: 2019-02-26

Abstract

Objective To investigate the clinical manifestations and gene mutation characteristics for congenital disorders of glycosylation caused by MPI gene mutation. Method One case with liver enlargement was diagnosed as congenital disturbance of glycosylation (CDG). We analyzed the clinical data and laboratory examination result, and the gene mutations identified by Sanger sequencing. Result The patient was a girl,the main clinical features are hepatomegaly, recurrent respiratory infection, chronic diarrhea that started from 1 year old. Physical examination showed that the liver is 4 cm and the spleen is 1 cm under the ribs. The abdominal MRI results were hepatomegaly with diffuse lesions. Genetic analysis showed that the patient carried compound heterozygous mutations of c.391G>A(p.Asp131Asn) and c.455G>A(p.Arg152G) in MPI gene (NM_002435.2), which were inherited from father and mother, respectively. Conclusion CDG is a metabolic disease caused by a group of autosomal recessive glycoprotein synthesis defects. MPI gene defect mainly manifested as hepatomegaly, vomiting, diarrhea, lymphangiectasis, protein losing enteropathy, hypoglycemia, the suspected cases can get a definite diagnosis by gene detection.

Cite this article

曾敬清,蒋丽蓉,王剑,等 . Clinical and genetic analysis for congenital disturbance of glycosylation with MPI gene mutation[J]. Journal of Clinical Pediatrics, 2019 , 37(2) : 138 . DOI: 10.3969/j.issn.1000-3606.2019.02.015

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