Ehlers‐Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene
ABSTRACT We report a 34‐year‐old Japanese female with the vascular type of Ehlers‐Danlos syndrome. She had thin translucent skin, extensive bruising, toe joint hypermobility, left lower extremity varicose veins, and chronic wrist, knee and ankle joint pain. She also had dizziness caused by autonomic...
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| Published in | Congenital anomalies Vol. 52; no. 4; pp. 207 - 210 |
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| Main Authors | , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English Japanese |
| Published |
Melbourne, Australia
Blackwell Publishing Asia
01.12.2012
Wiley Subscription Services, Inc |
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| Abstract | ABSTRACT
We report a 34‐year‐old Japanese female with the vascular type of Ehlers‐Danlos syndrome. She had thin translucent skin, extensive bruising, toe joint hypermobility, left lower extremity varicose veins, and chronic wrist, knee and ankle joint pain. She also had dizziness caused by autonomic dysfunction. Magnetic resonance angiography showed tortuous vertebral and basilar arteries, mild left carotid canal bulging, and right anterior tibial artery hypoplasia. Electron microscopic examinations of a skin biopsy revealed extremely dilated rough endoplasmic reticulum in dermal fibroblasts and wide variability of individual collagen fibril diameters. A molecular analysis using a conventional total RNA method and a high‐resolution melting curve analysis using genomic DNA revealed a novel missense mutation within exon 48 of the COL3A1 gene, c.3428G>A, leading to p.Gly1143Glu. |
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| AbstractList | We report a 34-year-old Japanese female with the vascular type of Ehlers-Danlos syndrome. She had thin translucent skin, extensive bruising, toe joint hypermobility, left lower extremity varicose veins, and chronic wrist, knee and ankle joint pain. She also had dizziness caused by autonomic dysfunction. Magnetic resonance angiography showed tortuous vertebral and basilar arteries, mild left carotid canal bulging, and right anterior tibial artery hypoplasia. Electron microscopic examinations of a skin biopsy revealed extremely dilated rough endoplasmic reticulum in dermal fibroblasts and wide variability of individual collagen fibril diameters. A molecular analysis using a conventional total RNA method and a high-resolution melting curve analysis using genomic DNA revealed a novel missense mutation within exon 48 of the COL3A1 gene, c.3428G>A, leading to p.Gly1143Glu. [PUBLICATION ABSTRACT] ABSTRACT We report a 34‐year‐old Japanese female with the vascular type of Ehlers‐Danlos syndrome. She had thin translucent skin, extensive bruising, toe joint hypermobility, left lower extremity varicose veins, and chronic wrist, knee and ankle joint pain. She also had dizziness caused by autonomic dysfunction. Magnetic resonance angiography showed tortuous vertebral and basilar arteries, mild left carotid canal bulging, and right anterior tibial artery hypoplasia. Electron microscopic examinations of a skin biopsy revealed extremely dilated rough endoplasmic reticulum in dermal fibroblasts and wide variability of individual collagen fibril diameters. A molecular analysis using a conventional total RNA method and a high‐resolution melting curve analysis using genomic DNA revealed a novel missense mutation within exon 48 of the COL3A1 gene, c.3428G>A, leading to p.Gly1143Glu. We report a 34-year-old Japanese female with the vascular type of Ehlers-Danlos syndrome. She had thin translucent skin, extensive bruising, toe joint hypermobility, left lower extremity varicose veins, and chronic wrist, knee and ankle joint pain. She also had dizziness caused by autonomic dysfunction. Magnetic resonance angiography showed tortuous vertebral and basilar arteries, mild left carotid canal bulging, and right anterior tibial artery hypoplasia. Electron microscopic examinations of a skin biopsy revealed extremely dilated rough endoplasmic reticulum in dermal fibroblasts and wide variability of individual collagen fibril diameters. A molecular analysis using a conventional total RNA method and a high-resolution melting curve analysis using genomic DNA revealed a novel missense mutation within exon 48 of the COL3A1 gene, c.3428G>A, leading to p.Gly1143Glu. ABSTRACT We report a 34‐year‐old Japanese female with the vascular type of Ehlers‐Danlos syndrome. She had thin translucent skin, extensive bruising, toe joint hypermobility, left lower extremity varicose veins, and chronic wrist, knee and ankle joint pain. She also had dizziness caused by autonomic dysfunction. Magnetic resonance angiography showed tortuous vertebral and basilar arteries, mild left carotid canal bulging, and right anterior tibial artery hypoplasia. Electron microscopic examinations of a skin biopsy revealed extremely dilated rough endoplasmic reticulum in dermal fibroblasts and wide variability of individual collagen fibril diameters. A molecular analysis using a conventional total RNA method and a high‐resolution melting curve analysis using genomic DNA revealed a novel missense mutation within exon 48 of the COL3A1 gene, c.3428G>A, leading to p.Gly1143Glu. We report a 34-year-old Japanese female with the vascular type of Ehlers-Danlos syndrome. She had thin translucent skin, extensive bruising, toe joint hypermobility, left lower extremity varicose veins, and chronic wrist, knee and ankle joint pain. She also had dizziness caused by autonomic dysfunction. Magnetic resonance angiography showed tortuous vertebral and basilar arteries, mild left carotid canal bulging, and right anterior tibial artery hypoplasia. Electron microscopic examinations of a skin biopsy revealed extremely dilated rough endoplasmic reticulum in dermal fibroblasts and wide variability of individual collagen fibril diameters. A molecular analysis using a conventional total RNA method and a high-resolution melting curve analysis using genomic DNA revealed a novel missense mutation within exon 48 of the COL3A1 gene, c.3428G>A, leading to p.Gly1143Glu. |
| Author | Kuroki, Yoshikazu Fujimoto, Wataru Kondo, Eisei Masuno, Mitsuo Ninomiya, Shinsuke Kadota, Kazushige Kotaka, Tatsuya Watanabe, Atsushi Shimada, Takashi Inoue, Mika Yamanouchi, Yasuko Naing, Banyar Than Ueda, Yasunori Ouchi, Kazunobu |
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| References_xml | – volume: 42 start-page: 98 year: 2005 end-page: 106 article-title: The spectrum, management and clinical outcome of Ehlers‐Danlos syndrome type IV: a 30‐year experience publication-title: J Vasc Surg – volume: 376 start-page: 1476 year: 2010 end-page: 1484 article-title: Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers‐Danlos syndrome: a prospective randomised, open, blinded‐endpoints trial publication-title: Lancet – volume: 13 start-page: 717 year: 2011 end-page: 722 article-title: COL3A1 haploinsufficiency results in a variety of Ehlers‐Danlos syndrome type IV with delayed onset of complications and longer life expectancy publication-title: Genet Med – volume: 24 start-page: 330 year: 2004 end-page: 337 article-title: Stability related bias in residues replacing glycines within the collagen triple helix (Gly‐Xaa‐Yaa) in inherited connective tissue disorders publication-title: Hum Mutat – volume: 163 start-page: 704 year: 2010 end-page: 710 article-title: Clinical and genetic features of 20 Japanese patients with vascular‐type Ehlers‐Danlos syndrome publication-title: Br J Dermatol – volume: 75 start-page: 254 year: 2008 end-page: 261 article-title: Vascular type of Ehlers‐Danlos syndrome publication-title: J Nippon Med Sch – volume: 405 start-page: 368 year: 2011 end-page: 372 article-title: A novel mutation screening system for Ehlers‐Danlos Syndrome, vascular type by high‐resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA publication-title: Biochem Biophys Res Commun – volume: 342 start-page: 673 year: 2000 end-page: 680 article-title: Clinical and genetic features of Ehlers‐Danlos syndrome type IV, the vascular type publication-title: N Engl J Med – volume: 71 start-page: 261 year: 2007 end-page: 265 article-title: Genetic aspects of the vascular type of Ehlers‐Danlos syndrome (vEDS, EDSIV) in Japan publication-title: Circ J – volume: 108 start-page: 241 year: 1997 end-page: 247 article-title: Mutations in the COL3A1 gene result in the Ehlers‐Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis publication-title: J Invest Dermatol – ident: e_1_2_5_9_1 doi: 10.1111/1523-1747.ep12286441 – ident: e_1_2_5_10_1 doi: 10.1272/jnms.75.254 – ident: e_1_2_5_3_1 doi: 10.1016/j.bbrc.2011.01.011 – ident: e_1_2_5_8_1 doi: 10.1111/j.1365-2133.2010.09874.x – ident: e_1_2_5_11_1 doi: 10.1253/circj.71.261 – ident: e_1_2_5_4_1 doi: 10.1016/j.jvs.2005.03.053 – ident: e_1_2_5_7_1 doi: 10.1002/humu.20091 – ident: e_1_2_5_2_1 doi: 10.1097/GIM.0b013e3182180c89 – ident: e_1_2_5_5_1 doi: 10.1016/S0140-6736(10)60960-9 – ident: e_1_2_5_6_1 doi: 10.1056/NEJM200003093421001 |
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We report a 34‐year‐old Japanese female with the vascular type of Ehlers‐Danlos syndrome. She had thin translucent skin, extensive bruising, toe joint... We report a 34-year-old Japanese female with the vascular type of Ehlers-Danlos syndrome. She had thin translucent skin, extensive bruising, toe joint... |
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| SubjectTerms | Adult Amino Acid Sequence Base Sequence Cerebral Angiography COL3A1 Collagen Type III - genetics Ehlers-Danlos Syndrome - diagnosis Ehlers-Danlos Syndrome - genetics Ehlers‐Danlos syndrome Exons Female high‐resolution melting curve analysis Humans Magnetic Resonance Angiography Molecular Sequence Data Mutation Mutation, Missense novel missense mutation Proteins Skin - pathology Skin - ultrastructure vascular type |
| Title | Ehlers‐Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene |
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