Evidence map›Paper›PMID 38937733›Full record

ArticleBMC medical genomics2024

Identification of four TTN variants in three families with fetal akinesia deformation sequence.

Lihong Fan, Haibo Li, Ying Xu, Yingzhi Huang, Yeqing Qian, Pengzhen Jin, Xueping Shen, Zhi Li, Mingsong Liu, Yufei Liang and 2 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Lihong FanCenter of Prenatal Diagnosis, Huzhou Maternity & Child Health Care Hospital, No. 2 East Street, Wuxing district, Huzhou, 313000, Zhejiang, China.
Haibo LiCentral Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, China.
Ying XuCentral Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, China.
Yingzhi HuangWomen's Hospital, School of Medicine, Zhejiang University, No.1 Xueshi road, Shangcheng district, Hangzhou, 310006, Zhejiang, China.
Yeqing QianWomen's Hospital, School of Medicine, Zhejiang University, No.1 Xueshi road, Shangcheng district, Hangzhou, 310006, Zhejiang, China.
Pengzhen JinWomen's Hospital, School of Medicine, Zhejiang University, No.1 Xueshi road, Shangcheng district, Hangzhou, 310006, Zhejiang, China.
Xueping ShenCenter of Prenatal Diagnosis, Huzhou Maternity & Child Health Care Hospital, No. 2 East Street, Wuxing district, Huzhou, 313000, Zhejiang, China.
Zhi LiCenter of Prenatal Diagnosis, Huzhou Maternity & Child Health Care Hospital, No. 2 East Street, Wuxing district, Huzhou, 313000, Zhejiang, China.
Mingsong LiuCenter of Prenatal Diagnosis, Huzhou Maternity & Child Health Care Hospital, No. 2 East Street, Wuxing district, Huzhou, 313000, Zhejiang, China.
Yufei LiangCenter of Prenatal Diagnosis, Huzhou Maternity & Child Health Care Hospital, No. 2 East Street, Wuxing district, Huzhou, 313000, Zhejiang, China.
Guosong ShenCenter of Prenatal Diagnosis, Huzhou Maternity & Child Health Care Hospital, No. 2 East Street, Wuxing district, Huzhou, 313000, Zhejiang, China. hzfbysgs@163.com.
Minyue DongWomen's Hospital, School of Medicine, Zhejiang University, No.1 Xueshi road, Shangcheng district, Hangzhou, 310006, Zhejiang, China. dongmy@zju.edu.cn.

Funding

Huzhou science and technology program 2022GY10
6 · The paper itself

Abstract

backgroundTTN is a complex gene with large genomic size and highly repetitive structure. Pathogenic variants in TTN have been reported to cause a range of skeletal muscle and cardiac disorders. Homozygous or compound heterozygous mutations tend to cause a wide spectrum of phenotypes with congenital or childhood onset. The onset and severity of the features were considered to be correlated with the types and location of the TTN variants.

methodsWhole-exome sequencing was performed on three unrelated families presenting with fetal akinesia deformation sequence (FADS), mainly characterized by reduced fetal movements and limb contractures. Sanger sequencing was performed to confirm the variants. RT-PCR analysis was performed.

resultsTTN c.38,876-2 A > C, a meta transcript-only variant, with a second pathogenic or likely pathogenic variant in trans, was observed in five affected fetuses from the three families. Sanger sequencing showed that all the fetal variants were inherited from the parents. RT-PCR analysis showed two kinds of abnormal splicing, including intron 199 extension and skipping of 8 bases.

conclusionsHere we report on three unrelated families presenting with FADS caused by four TTN variants. In addition, our study demonstrates that pathogenic meta transcript-only TTN variant can lead to defects which is recognizable prenatally in a recessive manner.

Indexed as

ConnectinPedigreeAdultArthrogryposisContractureExome SequencingFemaleFetusHumansMaleMutationPregnancyConnectinTTN protein, humanFetal akinesia deformation sequence (FADS)Meta transcript-onlyRT-PCRTTNWhole-exome sequencing

Identifiers

PMID38937733
PMCPMC11212154

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.