A previously unreported de novo FBN1 missense variant associated with a severe phenotype of neonatal Marfan syndrome

被引：0

作者：

Skaerbaek, Jens ^{[1
]}

Markholt, Sara ^{[2
]}

Gregersen, Pernille Axel ^{[2
,3
]}

Munk, Kim ^{[4
]}

Andersen, Brian Nauheimer ^{[3
]}

Petersen, Jesper Padkaer ^{[5
,6
]}

Bjerre, Jesper Vandborg ^{[7
]}

Kyng, Kasper Jacobsen ^{[5
,6
]}

机构：

[1] Vejle Hosp, Lillebaelt Hosp, Dept Clin Genet, Vejle, Denmark

[2] Aarhus Univ Hosp, Dept Clin Genet, Aarhus, Denmark

[3] Aarhus Univ Hosp, Dept Paediat, Ctr Rare Dis, Aarhus, Denmark

[4] Aarhus Univ Hosp, Dept Cardiol, Aarhus, Denmark

[5] Aarhus Univ Hosp, Neonatal Intens Care Unit, Aarhus, Denmark

[6] Aarhus Univ Hosp, Perinatal Res Unit, Dept Paediat, Aarhus, Denmark

[7] Aarhus Univ Hosp, Dept Paediat, Aarhus, Denmark

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

EP05.014

引用

页码：126 / 126

页数：1

共 50 条

[41] Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome
Wang, M
Kishnani, P
DeckerPhillips, M
Kahler, SG
Chen, YT
Godfrey, M
JOURNAL OF MEDICAL GENETICS, 1996, 33 (09) : 760 - 763
[42] A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant RNA Splicing in Marfan Syndrome
Dougarem, Djouhayna
Chen, Yi-Xiao
Sun, Yi-Na
Huang, He-Feng
Luo, Qiong
MOLECULAR GENETICS & GENOMIC MEDICINE, 2024, 12 (09):
[43] Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants
Yskert von Kodolitsch
Kerstin Kutsche
Journal of Human Genetics, 2015, 60 : 465 - 466
[44] Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants
von Kodolitsch, Yskert
Kutsche, Kerstin
JOURNAL OF HUMAN GENETICS, 2015, 60 (09) : 465 - 466
[45] Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions
Davis, Margaret R.
Arner, Erik
Duffy, Cairnan R. E.
De Sousa, Paul A.
Dahlman, Ingrid
Arner, Peter
Summers, Kim M.
MOLECULAR GENETICS AND METABOLISM, 2016, 119 (1-2) : 174 - 185
[46] Impact of Pathogenic FBN1 Variant Types on the Progression of Aortic Disease in Patients With Marfan Syndrome
Takeda, Norifumi
Inuzuka, Ryo
Maemura, Sonoko
Morita, Hiroyuki
Nawata, Kan
Fujita, Daishi
Taniguchi, Yuki
Yamauchi, Haruo
Yagi, Hiroki
Kato, Masayoshi
Nishimura, Hiroshi
Hirata, Yoichiro
Ikeda, Yuichi
Kumagai, Hidetoshi
Amiya, Eisuke
Hara, Hironori
Fujiwara, Takayuki
Akazawa, Hiroshi
Suzuki, Jun-ichi
Imai, Yasushi
Nagai, Ryozo
Takamoto, Shinichi
Hirata, Yasunobu
Ono, Minoru
Komuro, Issei
CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2018, 11 (06): : e002058
[47] DELINEATION OF THE MARFAN PHENOTYPE ASSOCIATED WITH MUTATIONS IN EXONS 23 THROUGH 32 OF THE FBN1 GENE
MILEWICZ, DM
CHO, M
ZINN, AB
TOWBIN, JA
BYERS, PH
PUTNAM, EA
AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 277 - 277
[48] Neonatal Marfan Syndrome: Unusually Large Deletion of Exons 24-26 of FBN1 Associated With Poor Prognosis
Apitz, C.
Mackensen-Haen, S.
Girisch, M.
Kerst, G.
Wiegand, G.
Stuhrmann, M.
Niethammer, K.
Behrwind, G.
Hofbeck, M.
KLINISCHE PADIATRIE, 2010, 222 (04): : 261 - 263
[49] Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene
Putnam, EA
Cho, M
Zinn, AB
Towbin, JA
Byers, PH
Milewicz, DM
AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 62 (03): : 233 - 242
[50] A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome
Willis, Brooke R.
Lee, Mianne
Rethanavelu, Kavitha
Fung, Jasmine L. F.
Wong, Rosanna M. S.
Hui, Peter
Yeung, Kit S.
Lo, Ivan F. M.
Chung, Brian H. Y.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (06) : 1329 - 1335

← 1 2 3 4 5 →