目的　分析临床罕见的黏脂贮积症（ML）II和 III α/β的临床特征及基因特点。方法　回顾分析3例 GNPTAB基因变异致ML II和 III α/β患儿的临床资料，并复习相关文献。结果　2例患儿为同一家系汉族男性，分别为8 岁3个月和23个月，有不同程度的关节挛缩和矮小；另1例患儿为女性，19个月，生长发育迟缓，面容特殊，眼眶浅、鼻梁 塌陷、嘴巴突出、耳位低等，反复呼吸道感染。基因检测显示2例男性患儿均有GNPTAB基因的复合杂合变异c.1284+1G>T； c.1370C>T（p.Pro436Leu）；女性患儿有GNPTAB基因的纯合变异c.1090C>T（p.Arg364*）。3例患儿的父母均携带 GNPTAB基因的杂合变异。结论　GNPTAB基因变异可致ML II和 III α/β，临床应注意两者的区分。

Objective　To analyze the clinical features and genetic characteristics of mucolipidosis (ML) II and III α / β. Methods　The clinical data of 3 children with ML II and III α / β caused by mutation of GNPTAB gene were retrospectively analyzed, and relevant literatures were reviewed. Results　Two children, aged 8 years and 3 months and 23 months, respectively, were Han nationality males from the same family. Both of them showed different degrees of joint contracture and short stature. The other child was a 19 months old girl, with symptom of growth retardation, shallow orbits, collapsed nose bridges, protruding mouth and low-set ears. She also had a history of repeated respiratory infections. Genetic testing showed that two male children had a compound heterozygous variant of c.1284+1G > T and c.1370C > T (p.Pro436Leu) in the GNPTAB gene. The female child had homozygous variants of c.1090C > T (p.Arg364*) in the GNPTAB gene. The parents of three patients carried heterozygous variants of the GNPTAB gene. Conclusions　Mutations of GNPTAB gene can result in ML II and III α / β that should be differentiated clinically.