Complex Heterozygous Mutation in the T-cell Immune Regulator 1 Gene Associated with Severe Ocular Characteristics of Osteopetrosis in an Infant

二维码有效期 120s

摘要Infantile malignant osteopetrosis (IMO) is a rare congenital disease that is characterized by an impaired function or differentiation of osteoclasts.IMO is the most severe type of osteopetrosis.Patients usually present various fatal manifestations soon after birth and die in infancy or childhood.Clinical features include bone marrow failure resulting in pancytopenia,hepatosplenomegaly,blindness secondary to optic nerve compression,hydrocephalus,and other neurological complications.[1] T-cell immune regulator 1 (TCIRG1,Gene ID:10312) is one of the main genes that are responsible for the majority of IMO cases.Mutations in TCIRG1 associated with general clinical features have been reported in some studies.[2] In this study,we reported the ocular manifestations and genetic findings of an IMO patient.

作者单位 Department of Ophthalmology, Beijing Children's Hospital, National Center for Children's Health, National Key Discipline of Pediatrics, Capital Medical University, Beijing 100045, China ;Beijing Tongren Eye Center, Beijing Key Laboratory of Ophthalmology and Visual Science, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China ^[1] Beijing Tongren Eye Center, Beijing Key Laboratory of Ophthalmology and Visual Science, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China ^[2] Department of Ophthalmology, Beijing Children's Hospital, National Center for Children's Health, National Key Discipline of Pediatrics, Capital Medical University, Beijing 100045, China ^[3]

栏目名称 Clinical Observations

DOI 10.4103/0366-6999.223844

发布时间 2018-03-21

基金项目

This study was supported by the grants from the National Natural Science Foundation of China the National Natural Science Foundation of China the Beijing Municipal Administration of Hospitals' Ascent Plan the Science and Technology Project of Beijing Municipal Science and Technology Commission the Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding Support the Beijing Natural Science Foundation the Advanced Health Care Professionals Development Project of Beijing Municipal Health Bureau

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