[A novel compound heterozygous mutation in NBAS gene causes SOPH syndrome and liver function damage]

J L Gu; W J Wang; L Li; Y J Zheng; X N Mao

doi:10.3760/cma.j.issn.0578-1310.2019.06.018

[A novel compound heterozygous mutation in NBAS gene causes SOPH syndrome and liver function damage]

Zhonghua Er Ke Za Zhi. 2019 Jun 2;57(6):487-489. doi: 10.3760/cma.j.issn.0578-1310.2019.06.018.

[Article in Chinese]

Authors

J L Gu¹, W J Wang¹, L Li¹, Y J Zheng¹, X N Mao²

Affiliations

¹ Department of Respiratory Disease, Shenzhen Children's Hospital, Shenzhen 518026, China.
² Clinical Laboratory, Shenzhen Children's Hospital, Shenzhen 518026, China.

PMID: 31216810
DOI: 10.3760/cma.j.issn.0578-1310.2019.06.018

Abstract

1例主诉为"发热伴口腔疱疹5 d"的患儿发现肝功能损害和Pelger-Huёt细胞，进一步完善基因检测发现NBAS基因复合杂合变异，变异位点为c.(7041_7043delTCT)和c.(3759delC)，分别来自于父亲和母亲杂合变异，此变异位点为新发现位点。检索国内外文献发现NBAS变异以c.(5741G>A)纯合变异为常见变异位点。结合患儿的临床表现及基因检测结果，诊断为NBAS基因缺陷性疾病(SOPH综合征和肝功能损伤)明确。.

Publication types

Case Reports

MeSH terms

Heterozygote
Humans
Liver / pathology
Liver Diseases / diagnosis*
Liver Diseases / genetics
Mutation / genetics
Neoplasm Proteins / deficiency
Neoplasm Proteins / genetics*
Pelger-Huet Anomaly / diagnosis*
Pelger-Huet Anomaly / genetics
Syndrome

Substances

NBAS protein, human
Neoplasm Proteins