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基于社交媒体和文献报告的大型队列得出的近端 6q 缺失的表型谱。

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports.

机构信息

Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.

Vanboeijen, Assen, The Netherlands.

出版信息

Eur J Hum Genet. 2018 Oct;26(10):1478-1489. doi: 10.1038/s41431-018-0172-9. Epub 2018 Jun 8.


DOI:10.1038/s41431-018-0172-9
PMID:29904178
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6138703/
Abstract

Proximal 6q (6q11-q15) deletions are extremely rare and little is known about their phenotypic consequences. Since parents and caregivers now use social media to seek information on rare disorders, the Chromosome 6 Project has successfully collaborated with a Facebook group to collect data on individuals worldwide. Here we describe a cohort of 20 newly identified individuals and 25 literature cases with a proximal 6q deletion. Microarray results and phenotype data were reported directly by parents via a multilingual online questionnaire. This led to phenotype descriptions for five subregions of proximal 6q deletions; comparing the subgroups revealed that 6q11q14.1 deletions presented less severe clinical characteristics than 6q14.2q15 deletions. Gastroesophageal reflux, tracheo/laryngo/bronchomalacia, congenital heart defects, cerebral defects, seizures, and vision and respiratory problems were predominant in those with 6q14.2q15 deletions. Problems related to connective tissue (hypermobility, hernias and foot deformities) were predominantly seen in deletions including the COL12A1 gene (6q13). Congenital heart defects could be linked to deletions of MAP3K7 (6q15) or TBX18 (6q14.3). We further discuss the role of ten genes known or assumed to be related to developmental delay and/or autism (BAI3, RIMS1, KCNQ5, HTR1B, PHIP, SYNCRIP, HTR1E, ZNF292, AKIRIN2 and EPHA7). The most influential gene on the neurodevelopmental phenotype seems to be SYNCRIP (6q14.3), while deletions that include more than two of these genes led to more severe developmental delay. We demonstrate that approaching individuals via social media and collecting data directly from parents is a successful strategy, resulting in better information to counsel families.

摘要

近端 6q(6q11-q15)缺失极为罕见,其表型后果知之甚少。由于父母和看护者现在使用社交媒体来获取罕见疾病的信息,因此染色体 6 项目已成功与一个 Facebook 群组合作,以收集全球范围内个体的相关数据。在这里,我们描述了一组 20 名新鉴定的个体和 25 名文献病例,他们存在近端 6q 缺失。微阵列结果和表型数据是由父母通过多语言在线问卷直接报告的。这导致了近端 6q 缺失的五个亚区的表型描述;对亚组进行比较后发现,6q11q14.1 缺失比 6q14.2q15 缺失表现出较轻的临床特征。胃食管反流、气管/喉/支气管软化、先天性心脏缺陷、脑缺陷、癫痫发作以及视力和呼吸问题在那些患有 6q14.2q15 缺失的人中较为常见。包括 COL12A1 基因(6q13)在内的缺失主要与结缔组织问题(活动过度、疝气和足部畸形)相关。先天性心脏缺陷可能与 MAP3K7(6q15)或 TBX18(6q14.3)的缺失有关。我们进一步讨论了十个已知或假定与发育迟缓相关的基因(BAI3、RIMS1、KCNQ5、HTR1B、PHIP、SYNCRIP、HTR1E、ZNF292、AKIRIN2 和 EPHA7)或自闭症(BAI3、RIMS1、KCNQ5、HTR1B、PHIP、SYNCRIP、HTR1E、ZNF292、AKIRIN2 和 EPHA7)的作用。对神经发育表型影响最大的基因似乎是 SYNCRIP(6q14.3),而包含两个以上这些基因的缺失则导致更严重的发育迟缓。我们证明,通过社交媒体接触个体并直接从父母那里收集数据是一种成功的策略,可以为家庭提供更好的咨询信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0466/6138703/549d6e516814/41431_2018_172_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0466/6138703/434b8570772e/41431_2018_172_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0466/6138703/549d6e516814/41431_2018_172_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0466/6138703/434b8570772e/41431_2018_172_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0466/6138703/549d6e516814/41431_2018_172_Fig3_HTML.jpg

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Genes (Basel). 2025-4-29

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[3]
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[4]
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[5]
Novel autopsy and genetic findings in an acardiac twin: case report and literature review.

Autops Case Rep. 2024-3-5

[6]
Advances in Genetics and Epigenetics of Developmental Coordination Disorder in Children.

Brain Sci. 2023-6-11

[7]
6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype-Phenotype Correlation.

J Pediatr Genet. 2021-1-6

[8]
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.

Orphanet J Rare Dis. 2023-3-24

[9]
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability.

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[10]
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本文引用的文献

[1]
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.

Am J Hum Genet. 2017-7-6

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De novo -predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.

Cold Spring Harb Mol Case Stud. 2016-11

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Neural Dev. 2016-11-21

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Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.

Am J Hum Genet. 2016-8-4

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Description of a child with a 6q14.1-q16.1 interstitial deletion: A very rare entity with airway manifestations.

Int J Pediatr Otorhinolaryngol. 2016-5

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A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.

Clin Case Rep. 2015-6

[10]
Excess of rare, inherited truncating mutations in autism.

Nat Genet. 2015-6

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