GNPTAB基因突变致黏脂贮积症II和IIIα/β3例报告并文献复习

Clinical feature and genetic analysis of mucolipidosis II and IIIα/βcaused by mutation of GNPTAB gene:a report of 3 cases and literature review

目的分析临床罕见的黏脂贮积症(ML)II和IIIα/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IIIα/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IIIα/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 IIIα/β.Methods The clinical data of 3 children with ML II and IIIα/βcaused 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 IIIα/βthat should be differentiated clinically.