PMID- 37484777 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20230725 IS - 2296-2360 (Print) IS - 2296-2360 (Electronic) IS - 2296-2360 (Linking) VI - 11 DP - 2023 TI - Outcomes after HSCT for mucolipidosis II (I-cell disease) caused by novel compound heterozygous GNPTAB mutations. PG - 1199489 LID - 10.3389/fped.2023.1199489 [doi] LID - 1199489 AB - BACKGROUND: Mucolipidosis type II (MLII), or I-cell disease, is a rare lysosomal storage disease (LSD) caused by variants in the GNPTAB gene. MLII patients exhibit clinical phenotypes in the prenatal or neonatal stage, such as marked dysmorphic features, cardiac involvement, respiratory symptoms, dysostosis multiplex, severe growth abnormalities, and mental and motor developmental abnormalities. The median age at diagnosis for MLII is 0.7 years, the median survival is 5.0 years, and the median age at death is 1.8 years. No cure for MLII exists. METHODS: Sanger sequencing of the GNPTAB gene identified the compound heterozygous mutations c.673C > T in exon 7 and c.1090C > T in exon 9, which were novel double heterozygous mutations first reported in China. For the first time, we describe our experience in the use of HSCT for MLII. Our patient underwent HSCT with cells from a 9/10 human leukocyte antigen (HLA)-matched unrelated donor at 12 months of age. Myeloid neutrophil and platelet engraftment occurred on Days 10 and 11, respectively. RESULTS: The patient's limb muscle tension was significantly reduced, and his gross and fine motor skills were improved four months after transplantation. DST(Developmental Screen Test) results showed that the patient's fine motor skills and mental development were improved compared with before HSCT. CONCLUSION: MLII is a very severe lysosomal storage disease, to date, only 3 cases have been reported on the use of HSCT to treat MLII. Our data show that HSCT is a potential way to prolong the life of patients and improve their quality of life. Due to the lack of comparable data and time, the exact benefit remains unclear in MLII patients. Longer-term follow-up and in-depth prospective studies are indispensable. CI - (c) 2023 He, Li, Lv, Tang, Sun, Zhu, Liu, Wu and Lu. FAU - He, Si-Jia AU - He SJ AD - Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China. FAU - Li, Dong-Jun AU - Li DJ AD - Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China. FAU - Lv, Wen-Qiong AU - Lv WQ AD - Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China. FAU - Tang, Wen-Hao AU - Tang WH AD - Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China. FAU - Sun, Shu-Wen AU - Sun SW AD - Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China. FAU - Zhu, Yi-Ping AU - Zhu YP AD - Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China. FAU - Liu, Ying AU - Liu Y AD - Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Department of Pediatrics, Prenatal Diagnosis Center of West China Second University Hospital, Chengdu, China. FAU - Wu, Jin AU - Wu J AD - Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Department of Pediatrics, Prenatal Diagnosis Center of West China Second University Hospital, Chengdu, China. FAU - Lu, Xiao-Xi AU - Lu XX AD - Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China. LA - eng PT - Journal Article DEP - 20230706 PL - Switzerland TA - Front Pediatr JT - Frontiers in pediatrics JID - 101615492 PMC - PMC10359890 OTO - NOTNLM OT - GNPTAB OT - hematopoietic stem cell transplantation OT - mucolipidosis type II (MLII) OT - sanger sequencing OT - treatment COIS- The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. EDAT- 2023/07/24 06:42 MHDA- 2023/07/24 06:43 PMCR- 2023/07/06 CRDT- 2023/07/24 04:47 PHST- 2023/04/03 00:00 [received] PHST- 2023/06/05 00:00 [accepted] PHST- 2023/07/24 06:43 [medline] PHST- 2023/07/24 06:42 [pubmed] PHST- 2023/07/24 04:47 [entrez] PHST- 2023/07/06 00:00 [pmc-release] AID - 10.3389/fped.2023.1199489 [doi] PST - epublish SO - Front Pediatr. 2023 Jul 6;11:1199489. doi: 10.3389/fped.2023.1199489. eCollection 2023.