Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2019 Dec;21(12):1208-1211.
doi: 10.7499/j.issn.1008-8830.2019.12.011.

[Floating-Harbor syndrome: a case report and literature review]

[Article in Chinese]
Rong-Min Li  1 , Ya-Chao Lu, Zhen Li, Jie-Ying Wang, Jie Chang, Shu-Qin Lei, Qiao Zeng, Yan-Mei Sang
Affiliations
Review

[Floating-Harbor syndrome: a case report and literature review]

[Article in Chinese]
Rong-Min Li et al. Zhongguo Dang Dai Er Ke Za Zhi. 2019 Dec.

Abstract
in English, Chinese

Floating-Harbor syndrome (FHS) is an autosomal dominant genetic disease caused by SRCAP mutation. This article reports the clinical features of a boy with FHS. The boy, aged 11 years and 7 months, attended the hospital due to short stature for more than 8 years and had the clinical manifestations of unusual facial features (triangularly shaped face, thin lips and long eyelashes), skeletal dysplasia (curvature finger), expressive language disorder, and retardation of bone age. Genetic detection revealed a novel heterozygous mutation, c.7330 C>T(p.R2444X), in the SRCAP gene. The boy was diagnosed with FHS based on these clinical manifestations and gene detection results. FHS is rare in clinical practice, which may lead to missed diagnosis and misdiagnosis, and gene detection may help with the clinical diagnosis of FHS in children.

Floating-Harbor综合征（FHS）是由于SRCAP基因突变引起的常染色体显性遗传病。该文报道1例FHS患儿的临床特点。患儿为11岁7个月的男孩，因发现身材矮小8年余就诊。患儿表现为特殊面部特征（三角脸、嘴唇薄、长睫毛）、骨骼畸形（手指弯曲）、语言表达障碍、骨龄落后。基因检测显示SRCAP基因存在新发c.7330C > T (p.R2444X)杂合突变。根据患儿特征性的临床表现及基因检测结果，患儿确诊为FHS。FHS临床罕见，容易漏诊及误诊，基因检测分析有助于FHS患儿的临床诊断。

PubMed Disclaimer

Figures

1
1
患儿面部特征
2
2
基因测序结果
See this image and copyright information in PMC

References

    1. Hood RL, Schenkel LC, Nikkel SM, et al. The defining DNA methylation signature of Floating-Harbor syndrome. Sci Rep. 2016;6:38803. doi: 10.1038/srep38803. - DOI - PMC - PubMed
    1. Gerundino F, Marseglia G, Pescucci C, et al. 16p11. 2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems. Eur J Med Genet. 2014;57(11-12):649–653. doi: 10.1016/j.ejmg.2014.09.009. - DOI - PubMed
    1. Kehrer M, Beckmann A, Wyduba J, et al. Floating-Harbor syndrome:SRCAP mutations are not restricted to exon 34. Clin Genet. 2014;85(5):498–499. doi: 10.1111/cge.12199. - DOI - PubMed
    1. Messina G, Atterrato MT, Dimitri P. When chromatin organisation floats astray:the Srcap gene and Floating-Harbor syndrome. J Med Genet. 2016;53(12):793–797. doi: 10.1136/jmedgenet-2016-103842. - DOI - PubMed
    1. Hood RL, Lines MA, Nikkel SM, et al. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet. 2012;90(2):308–313. doi: 10.1016/j.ajhg.2011.12.001. - DOI - PMC - PubMed

Substances

Supplementary concepts