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伴有视神经萎缩和Pelger-Huët 异常的矮小身材性视盘发育不良与神经母细胞瘤扩增序列（NBAS）基因突变。

Foveal hypoplasia in short stature with optic atrophy and Pelger-Huët anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation.

机构信息

Department of Ophthalmology, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea.

Department of Ophthalmology, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea.

出版信息

J AAPOS. 2021 Aug;25(4):257-259.e2. doi: 10.1016/j.jaapos.2016.09.030. Epub 2017 Jan 20.

DOI:10.1016/j.jaapos.2016.09.030
PMID:28115293
Abstract

Short stature with optic atrophy and Pelger-Huët anomaly (SOPH) syndrome has been known to cause optic atrophy and achromatopsia resulting from stationary cone dysfunction. This report describes foveal hypoplasia in a brother and sister with SOPH syndrome, which is associated with defects in the neuroblastoma amplified sequence (NBAS) gene. As NBAS gene may play an important role in retinal homeostasis, patients with SOPH should be monitored carefully for ocular abnormalities.

摘要

短身材伴视神经萎缩和 Pelger-Huët 异常（SOPH）综合征已知可引起视神经萎缩和失色觉，这是由于静止锥功能障碍所致。本报告描述了一对 SOPH 综合征兄妹的中心凹发育不良，这与神经母细胞瘤扩增序列（NBAS）基因缺陷有关。由于 NBAS 基因可能在视网膜内环境稳定中发挥重要作用，因此 SOPH 患者应仔细监测眼部异常。

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1
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Mol Genet Genomic Med. 2023 Mar;11(3):e2120. doi: 10.1002/mgg3.2120. Epub 2022 Dec 8.
2
Case report: A novel cause of acute liver failure in children: A combination of human herpesvirus-6 infection and homozygous mutation in NBAS gene.病例报告：儿童急性肝衰竭的新病因：人类疱疹病毒 6 感染与 NBAS 基因纯合突变的联合作用。
J Clin Lab Anal. 2022 May;36(5):e24343. doi: 10.1002/jcla.24343. Epub 2022 Mar 29.
3
Novel compound heterozygous variants in the gene in a child with osteogenesis imperfecta and recurrent acute liver failure.
患儿患有成骨不全症和复发性急性肝衰竭，携带 基因的新型复合杂合变异。
BMJ Case Rep. 2021 Feb 4;14(2):e234993. doi: 10.1136/bcr-2020-234993.
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Complex Multisystem Phenotype With Immunodeficiency Associated With Mutations: Reports of Three Patients and Review of the Literature.伴有免疫缺陷的复杂多系统表型与突变相关：三例患者报告及文献综述
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