A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome.

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Cold Spring Harbor Molecular Case Studies Pub Date : 2022-10-01 DOI:10.1101/mcs.a006213
Sümeyye Elgaz, Boris Wittekindt, Anoosh Esmaeili, Sebastian Fischer, Hanno J Bolz, Ulrich Zechner, Horst Buxmann
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引用次数: 1

Abstract

Neonatal Marfan syndrome (nMFS) is a rare and severe form of Marfan syndrome (MFS) with a poor prognosis, that presents with a highly variable phenotype, particularly regarding skeletal, ocular, and cardiovascular manifestations. Mutations in the fibrillin-1 (FBN1) gene are known as the principal cause of MFS and MFS-related syndromes. Here, we report on a full-term female neonate with postnatal characteristics suggestive of nMFS, including severe cardiovascular disease resulting in cardiorespiratory failure and death by 4 mo of age. We identified a novel large genomic in-frame deletion of FBN1 exons 42-45, c.(5065 + 1_5066 - 1)_(5545 + 1_5546 - 1)del. Large FBN1 in-frame deletions between exons 24 and 53 have been associated with severe MFS. The deletion in our patient differs from the FBN1 region associated with the majority of nMFS cases, exons 24-32.

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一个新的大框架内FBN1缺失导致新生儿马凡氏综合征。
新生儿马凡氏综合征(nMFS)是一种罕见且严重的马凡氏综合征(MFS),预后较差,表现为高度可变的表型,特别是在骨骼、眼部和心血管方面的表现。纤维蛋白1 (FBN1)基因突变被认为是MFS和MFS相关综合征的主要原因。在这里,我们报告了一个足月女性新生儿的产后特征提示nMFS,包括严重的心血管疾病导致心肺衰竭和死亡的4个月大。我们发现了一个新的基因组框架内大缺失,FBN1外显子42-45,c (5065 + 1_5066 - 1)_(5545 + 1_5546 - 1)del。帧内外显子24和53之间的大FBN1缺失与严重的MFS有关。我们患者的缺失不同于与大多数nMFS病例相关的FBN1区域,外显子24-32。
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来源期刊
Cold Spring Harbor Molecular Case Studies
Cold Spring Harbor Molecular Case Studies MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
3.20
自引率
0.00%
发文量
54
期刊介绍: Cold Spring Harbor Molecular Case Studies is an open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The journal''s purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches. The journal covers the fields of cancer, complex diseases, monogenic disorders, neurological conditions, orphan diseases, infectious disease, gene therapy, and pharmacogenomics. It has a rapid peer-review process that is based on technical evaluation of the analyses performed, not the novelty of findings, and offers a swift, clear path to publication. The journal publishes: Research Reports presenting detailed case studies of individuals and small cohorts, Research Articles describing more extensive work using larger cohorts and/or functional analyses, Rapid Communications presenting the discovery of a novel variant and/or novel phenotype associated with a known disease gene, Rapid Cancer Communications presenting the discovery of a novel variant or combination of variants in a cancer type, Variant Discrepancy Resolution describing efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing, Follow-up Reports linked to previous observations, Plus Review Articles, Editorials, and Position Statements on best practices for research in precision medicine.
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