Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G>A mutation in exon 29 of the FBN1 gene

被引：4

作者：

Derbent, Murat ^{[1
]}

Anuk, Deniz ^{[1
]}

Tarcan, Aylin ^{[1
]}

Varan, Birguel ^{[2
]}

Gurakan, Berkan ^{[1
]}

Tokel, Kursad ^{[2
]}

机构：

[1] Baskent Univ, Fac Med, Dept Pediat, TR-06490 Ankara, Turkey

[2] Baskent Univ, Fac Med, Dept Pediat Cardiol, TR-06490 Ankara, Turkey

来源：

CLINICAL DYSMORPHOLOGY | 2008年 / 17卷 / 02期

关键词：

FBN1; fibrillin; functional; Marfan syndrome; pulmonary atresia;

D O I：

10.1097/MCD.0b013e328248b6b0

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Neonatal Marfan syndrome is a severe form of the syndrome mostly caused by de-novo mutations in the fibrillin-1 gene. We report a newborn with neonatal Marfan syndrome and functional pulmonary atresia who (lied from congestive heart failure on postnatal day 22 despite treatment. He had a mutation in exon 29 of the fibrillin-1 gene at position c.3602G>A. Functional pulmonary atresia may be a life-threatening cardiovascular manifestation of neonatal Marfan syndrome.

引用

页码：127 / 128

页数：2

共 45 条

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Japanese Journal of Ophthalmology, 2008, 52 : 497 - 499
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GENES, 2022, 13 (11)
[26] Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the FBN1 Gene A Case Report and Review of Literature
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[27] Generation of a human iPSC line QDMHi001-A from a patient with Marfan syndrome carrying a heterozygous c.6772 T > C variant in FBN1
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STEM CELL RESEARCH, 2021, 54
[28] Generation of a CRISPR/Cas9-corrected-hiPSC (NCCDFWi001-A-1) from a Marfan syndrome patient hiPSC with a heterozygous c.2613A>C variant in the fibrillin 1 (FBN1) gene
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STEM CELL RESEARCH, 2023, 68
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EUROPEAN JOURNAL OF MEDICAL GENETICS, 2022, 65 (11)

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Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G&gt;A mutation in exon 29 of the FBN1 gene

Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G>A mutation in exon 29 of the FBN1 gene