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Objective To investigate the genotypic and phenotypic characteristics of AB type GM2 gangliosidosis (GM2-GLS) with onset during childhood. Methods The report analyzed the clinical data and gene detection results of a 4-year-old child with AB type GM2-GLS diagnosed by Trio whole exome detection in March 2022 admitted to the Department of Pediatrics of Guangxi Zhuang Autonomous Region People's Hospital. The clinical data and genetic testing results are analyzed. A literature review was also conducted on relevant studies published between 1991 and 2022 in the PubMed database. Results The results of Trio whole exome sequencing and Sanger verification showed that the GM2A gene carried two compound heterozygous mutations: c.158_159delTG and c.496G>A, which caused p.L53Rfs*3 frameshift mutation and p.G166R missense mutation, respectively. A total of 20 cases were reported in 22 articles. A total of 11 mutation types of GM2A gene were included in the ClinVar Database. Conclusions AB type GM2-GLS is a rare autosomal recessive lysosomal storage disease, and its gene test is helpful for definite diagnosis.
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| 科 Family | 属数 Number of genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) | 属 Genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) |
|---|---|---|---|---|---|---|
| 鹅膏菌科Amanitaceae | 2 | 11 | 5.26 | 鹅膏菌属 Amanita | 10 | 4.78 |
| 小菇科 Mycenaceae | 2 | 12 | 5.74 | 丝盖伞属 Inocybe | 5 | 2.39 |
| 多孔菌科 Polyporaceae | 8 | 14 | 6.70 | 蜡蘑属 Laccaria | 5 | 2.39 |
| 红菇科 Russulaceae | 3 | 23 | 11.00 | 小皮伞属 Marasmius | 6 | 2.87 |
| 小菇属 Mycena | 11 | 5.26 | ||||
| 光柄菇属 Pluteus | 5 | 2.39 | ||||
| 红菇属 Russula | 17 | 8.13 | ||||
| 栓菌属 Trametes | 5 | 2.39 |
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