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

IF 2.8 3区生物学 Q2 GENETICS & HEREDITY

Frontiers in Genetics Pub Date : 2025-01-03 eCollection Date: 2024-01-01 DOI:10.3389/fgene.2024.1439905

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

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引用次数: 0

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.

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ANKRD11中一个新的移码变异的鉴定：一例KBG综合征报告。

背景：KBG综合征（KBGS, OMIM: 148050）是一种罕见的遗传性疾病，其特征是牙齿大、身材矮小、骨骼异常和神经系统表现。本研究的目的是调查一例由ANKRD11的一个新的移码突变引起的KBG综合征。方法和结果：我们报告了一名18岁的中国男性，其特征包括三角形脸、小颌、远端畸形、大牙齿、浓密的眉毛、突出的耳朵、身材矮小、发际线低、认知发育迟缓和脊柱侧凸。全外显子组测序在ANKRD11基因中发现了一个新的移码变异，最终导致了KBG综合征的诊断。结论：在这项研究中，我们在ANKRD11中发现了一个以前未报道的移码变异（NM_013275.6:c.2589dup），该突变可导致KBG综合征。这一发现扩大了这种罕见遗传疾病的分子和临床谱。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Frontiers in Genetics Biochemistry, Genetics and Molecular Biology-Molecular Medicine

CiteScore

5.50

自引率

8.10%

发文量

3491

审稿时长

14 weeks

期刊介绍： Frontiers in Genetics publishes rigorously peer-reviewed research on genes and genomes relating to all the domains of life, from humans to plants to livestock and other model organisms. Led by an outstanding Editorial Board of the world’s leading experts, this multidisciplinary, open-access journal is at the forefront of communicating cutting-edge research to researchers, academics, clinicians, policy makers and the public. The study of inheritance and the impact of the genome on various biological processes is well documented. However, the majority of discoveries are still to come. A new era is seeing major developments in the function and variability of the genome, the use of genetic and genomic tools and the analysis of the genetic basis of various biological phenomena.