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Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae
A heterozygous deletion of exon 9 in the COL1A2 ‐ mRNA of a patient with symptoms of both the Ehlers ‐ Danlos ‐ Syndrome and the Osteogenesis Imperfecta is described. In the genomic DNA of the patient, exon 9 is homozygously present. We identified a novel heterozygous point mutation in the splice do...
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| Published in: | Human mutation 1998, Vol.12 (2), p.138-138 |
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| Main Authors: | , , , , , |
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| container_end_page | 138 |
| container_issue | 2 |
| container_start_page | 138 |
| container_title | Human mutation |
| container_volume | 12 |
| creator | Feshchenko, Sergej Brinckmann, Jürgen Lehmann, Hartwig W. Koch, Hans-Georg Müller, Peter K. Kügler, Sebastian |
| description | A heterozygous deletion of exon 9 in the COL1A2 ‐ mRNA of a patient with symptoms of both the Ehlers ‐ Danlos ‐ Syndrome and the Osteogenesis Imperfecta is described. In the genomic DNA of the patient, exon 9 is homozygously present. We identified a novel heterozygous point mutation in the splice donor site of intron 9, leading to a G→A substitution in position +5. This mutation leads to heterozygous skipping of exon 9 in the COL1A2 ‐ mRNA of this patient. The deletion results in a shortened (by 18 amino acids) but in frame l2(1) chain, which probably leads to the formation of abberantly processed triple helices. Hum Mutat 12:138, 1998. © 1998 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU17>3.0.CO;2-D |
| format | article |
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Mutat</addtitle><date>1998</date><risdate>1998</risdate><volume>12</volume><issue>2</issue><spage>138</spage><epage>138</epage><pages>138-138</pages><issn>1059-7794</issn><eissn>1098-1004</eissn><abstract>A heterozygous deletion of exon 9 in the COL1A2 ‐ mRNA of a patient with symptoms of both the Ehlers ‐ Danlos ‐ Syndrome and the Osteogenesis Imperfecta is described. In the genomic DNA of the patient, exon 9 is homozygously present. We identified a novel heterozygous point mutation in the splice donor site of intron 9, leading to a G→A substitution in position +5. This mutation leads to heterozygous skipping of exon 9 in the COL1A2 ‐ mRNA of this patient. The deletion results in a shortened (by 18 amino acids) but in frame l2(1) chain, which probably leads to the formation of abberantly processed triple helices. Hum Mutat 12:138, 1998. © 1998 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><doi>10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU17>3.0.CO;2-D</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Ehlers-Danlos syndrome Osteogenesis imperfecta splicing mutations |
| title | Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae |
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