来自阿根廷戈谢病全国队列的GBA1基因座的长读长单分子实时（SMRT）测序揭示了严重骨骼表型潜在的复杂等位基因的高频率：阿根廷戈谢病诊断与治疗小组的合作研究

Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease.

作者信息

Drelichman Guillermo I, Fernández Escobar Nicolas, Soberon Barbara C, Basack Nora F, Frabasil Joaquin, Schenone Andrea B, Aguilar Gabriel, Larroudé Maria S, Knight James R, Zhao Dejian, Ruan Jiapeng, Mistry Pramod K

机构信息

Unidad de Hematología, Hospital de Niños "Ricardo Gutiérrez", Ciudad Autónoma de Buenos Aires, Argentina.

Laboratorio de Neuroquímica "Dr. N. A. Chamoles", Ciudad Autónoma de Buenos Aires, Argentina.

出版信息

Mol Genet Metab Rep. 2021 Nov 11;29:100820. doi: 10.1016/j.ymgmr.2021.100820. eCollection 2021 Dec.

DOI:10.1016/j.ymgmr.2021.100820

PMID:34820281

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8600149/

Abstract

Gaucher disease is reckoned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher, GADTEG, have delineated uniformly severe type 1 Gaucher disease manifestations presenting in childhood with large burden of irreversible skeletal disease. Here using Long-Read Single Molecule Real-Time (SMRT) Sequencing of GBA1 locus, we show that RecI allele is highly prevalent and associates with severe skeletal manifestations in childhood.

摘要

戈谢病具有极端的表型多样性，不存在一致的基因型/表型相关性。在阿根廷，一个全国性的协作小组，即阿根廷戈谢病诊断与治疗小组（GADTEG），已经描述了1型戈谢病在儿童期出现的统一的严重表现，伴有不可逆骨骼疾病的巨大负担。在这里，我们使用GBA1基因座的长读长单分子实时（SMRT）测序，表明RecI等位基因高度流行，并与儿童期严重的骨骼表现相关。