• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

ANKRD11基因中一个新的移码变异的鉴定：一例KBG综合征病例报告

Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome.

作者信息

Shao Qing, Jiang Qiang, Luo Yuqi, Meng Yimei, Tian Guoyu, Yin Xiao

机构信息

Department of Endocrinology and Metabolic Diseases, Shandong First University Affiliated Central Hospital, Jinan, China.

出版信息

Front Genet. 2025 Jan 3;15:1439905. doi: 10.3389/fgene.2024.1439905. eCollection 2024.

DOI:10.3389/fgene.2024.1439905
PMID:39831200
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11739138/
Abstract

BACKGROUND

KBG syndrome (KBGS, OMIM: 148050) is a rare genetic disorder characterized by macrodontia, short stature, skeletal abnormalities, and neurological manifestations. The objective of this study is to investigate a case of KBG syndrome caused by a novel frameshift mutation in ANKRD11.

METHODS AND RESULTS

We present the case of an 18-year-old Chinese male exhibiting characteristic features including a triangular face, micrognathia, hypertelorism, macrodontia, bushy eyebrows, prominent ears, short stature, low hairline, delayed cognitive development, and scoliosis. Whole exome sequencing identified a novel frameshift variant in the ANKRD11 gene which ultimately led to the diagnosis of KBG syndrome.

CONCLUSION

In this study we have identified a previously unreported frameshift variant (NM_013275.6:c.2589dup) in ANKRD11 that causes KBG syndrome. This finding expands both the molecular and clinical spectrum of this rare genetic disease.

摘要

背景

KBG综合征（KBGS，OMIM：148050）是一种罕见的遗传性疾病，其特征为巨牙症、身材矮小、骨骼异常和神经学表现。本研究的目的是调查一例由ANKRD11基因中的一种新型移码突变引起的KBG综合征病例。

方法与结果

我们报告了一例18岁中国男性病例，其具有三角脸、小颌畸形、眼距过宽、巨牙症、浓眉、招风耳、身材矮小、发际线低、认知发育迟缓以及脊柱侧弯等特征。全外显子组测序在ANKRD11基因中鉴定出一种新型移码变异，最终确诊为KBG综合征。

结论

在本研究中，我们在ANKRD11基因中鉴定出一种先前未报道的移码变异（NM_013275.6:c.2589dup），该变异导致了KBG综合征。这一发现扩展了这种罕见遗传病的分子和临床谱。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3db/11739138/8e464deb8585/fgene-15-1439905-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3db/11739138/eacae553228a/fgene-15-1439905-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3db/11739138/28c6df388588/fgene-15-1439905-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3db/11739138/f8bd38a3e568/fgene-15-1439905-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3db/11739138/8e464deb8585/fgene-15-1439905-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3db/11739138/eacae553228a/fgene-15-1439905-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3db/11739138/28c6df388588/fgene-15-1439905-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3db/11739138/f8bd38a3e568/fgene-15-1439905-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3db/11739138/8e464deb8585/fgene-15-1439905-g004.jpg

相似文献

1
Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome.ANKRD11基因中一个新的移码变异的鉴定：一例KBG综合征病例报告
Front Genet. 2025 Jan 3;15:1439905. doi: 10.3389/fgene.2024.1439905. eCollection 2024.
2
A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.一个新发的ANKRD11 框移变异（c.1366_1367dup）导致的中国 KBG 综合征患者。
BMC Med Genomics. 2021 Mar 2;14(1):68. doi: 10.1186/s12920-021-00920-3.
3
Two Novel Mutations of Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review.KBG综合征中基因的两种新突变及广泛临床谱：病例报告与文献综述
Front Genet. 2020 Nov 11;11:579805. doi: 10.3389/fgene.2020.579805. eCollection 2020.
4
A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion.一个通过ANKRD11突变鉴定出患有KBG综合征的韩裔家庭，以及ANKRD11突变与16q24.3微缺失的表型比较。
Eur J Med Genet. 2015 Feb;58(2):86-94. doi: 10.1016/j.ejmg.2014.11.003. Epub 2014 Nov 20.
5
Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome.中国及文献报道的KBG综合征临床谱与基因型关联的综合分析
Transl Pediatr. 2021 Apr;10(4):834-842. doi: 10.21037/tp-20-385.
6
Functional investigation of a novel frameshift variant identified in a Chinese family with KBG syndrome.对在中国一个患有KBG综合征的家族中鉴定出的一种新型移码变体的功能研究。
Heliyon. 2024 Mar 13;10(6):e28082. doi: 10.1016/j.heliyon.2024.e28082. eCollection 2024 Mar 30.
7
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.与GEFS +表型谱相关的KBG综合征轻度表型个体中的新型ANKRD11基因突变：病例报告
BMC Med Genet. 2019 Jan 14;20(1):16. doi: 10.1186/s12881-019-0745-7.
8
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.ANKRD11 部分缺失导致 KBG 表型与 16q24.3 微缺失综合征不同。
Am J Med Genet A. 2013 Apr;161A(4):835-40. doi: 10.1002/ajmg.a.35739. Epub 2013 Mar 12.
9
Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature.KBG综合征的遗传和表型谱：13例中国新病例报告及文献复习
J Pers Med. 2022 Mar 5;12(3):407. doi: 10.3390/jpm12030407.
10
KBG syndrome: report and follow-up on three unrelated patients observed at different ages.KBG综合征：三例不同年龄非亲缘关系患者的报告及随访
Ital J Pediatr. 2025 Feb 21;51(1):54. doi: 10.1186/s13052-025-01884-1.

本文引用的文献

1
Clinical feature and genetic mutation of KBG syndrome diagnosed in neonatal period: A case report.新生儿期诊断的 KBG 综合征的临床特征和基因突变：病例报告。
Medicine (Baltimore). 2023 Oct 6;102(40):e35449. doi: 10.1097/MD.0000000000035449.
2
Identification of Two Novel Mutations: Highlighting Incomplete Penetrance in KBG Syndrome.两种新突变的鉴定：突显KBG综合征的不完全外显率
Ann Lab Med. 2024 Jan 1;44(1):110-117. doi: 10.3343/alm.2024.44.1.110. Epub 2023 Sep 4.
3
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.
KBG 综合征：七例韩国散发家系的临床特征和分子遗传学研究，并文献复习
Mol Genet Genomic Med. 2023 Apr;11(4):e2127. doi: 10.1002/mgg3.2127. Epub 2022 Dec 23.
4
Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review.RRAS2 基因突变致努南综合征的临床分析并文献复习。
Eur J Med Genet. 2023 Jan;66(1):104675. doi: 10.1016/j.ejmg.2022.104675. Epub 2022 Nov 30.
5
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.KBG 综合征 340 例临床描述、分子剖析及基因型-表型相关性：新增 67 例患者。
J Med Genet. 2023 Jul;60(7):644-654. doi: 10.1136/jmg-2022-108632. Epub 2022 Nov 29.
6
Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature.KBG综合征的遗传和表型谱：13例中国新病例报告及文献复习
J Pers Med. 2022 Mar 5;12(3):407. doi: 10.3390/jpm12030407.
7
KBG syndrome in a Chinese population: A case series.中国人群中的KBG综合征：病例系列
Am J Med Genet A. 2022 Jun;188(6):1693-1699. doi: 10.1002/ajmg.a.62688. Epub 2022 Feb 17.
8
ANKRD11 variants: KBG syndrome and beyond.ANKRD11 变异：KBG 综合征及其他。
Clin Genet. 2021 Aug;100(2):187-200. doi: 10.1111/cge.13977. Epub 2021 May 14.
9
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.胚系激活 RRAS2 突变导致努南综合征。
Am J Hum Genet. 2019 Jun 6;104(6):1233-1240. doi: 10.1016/j.ajhg.2019.04.014. Epub 2019 May 23.
10
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.RRAS2 激活突变是诺南综合征的一个罕见病因。
Am J Hum Genet. 2019 Jun 6;104(6):1223-1232. doi: 10.1016/j.ajhg.2019.04.013. Epub 2019 May 23.