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. Mutations in brief no. 166. Online.

S. Feshchenko; J. Brinckmann; H. W. Lehmann; H. G. Koch; P. K. Müller; S. Kügler

doi:10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU17>3.0.CO;2-D

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. Mutations in brief no. 166. Online.

S. Feshchenko^*, J. Brinckmann, H. W. Lehmann, H. G. Koch, P. K. Müller, S. Kügler

^*Corresponding author for this work

Clinic of Dermatology, Allergology and Venerology

21 Citations (Scopus)

Abstract

A heterozygous deletion of exon 9 in the COL1A2-mRNA of a patient with symptoms of both the Ehlers-Danlos-Syndrome and the Osteogensis 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 12(1) chain, which probably leads to the formation of abberantly processed triple helices.

Original language	English
Journal	Human Mutation
Volume	12
Issue number	2
Number of pages	1
ISSN	1059-7794
DOIs	https://doi.org/10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU17>3.0.CO;2-D
Publication status	Published - 07.12.1998

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Academic Focus: Center for Infection and Inflammation Research (ZIEL)

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Feshchenko, S., Brinckmann, J., Lehmann, H. W., Koch, H. G., Müller, P. K., & Kügler, S. (1998). 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. Mutations in brief no. 166. Online. Human Mutation, 12(2). https://doi.org/10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU17>3.0.CO;2-D

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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. Mutations in brief no. 166. Online.",

abstract = "A heterozygous deletion of exon 9 in the COL1A2-mRNA of a patient with symptoms of both the Ehlers-Danlos-Syndrome and the Osteogensis 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 12(1) chain, which probably leads to the formation of abberantly processed triple helices.",

author = "S. Feshchenko and J. Brinckmann and Lehmann, \{H. W.\} and Koch, \{H. G.\} and M{\"u}ller, \{P. K.\} and S. K{\"u}gler",

year = "1998",

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Feshchenko, S, Brinckmann, J, Lehmann, HW, Koch, HG, Müller, PK & Kügler, S 1998, '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. Mutations in brief no. 166. Online.', Human Mutation, vol. 12, no. 2. https://doi.org/10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU17>3.0.CO;2-D

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. Mutations in brief no. 166. Online. / Feshchenko, S.; Brinckmann, J.; Lehmann, H. W. et al.
In: Human Mutation, Vol. 12, No. 2, 07.12.1998.

Research output: Journal Articles › Journal articles › Research › peer-review

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AU - Feshchenko, S.

AU - Brinckmann, J.

AU - Lehmann, H. W.

AU - Koch, H. G.

AU - Müller, P. K.

AU - Kügler, S.

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N2 - A heterozygous deletion of exon 9 in the COL1A2-mRNA of a patient with symptoms of both the Ehlers-Danlos-Syndrome and the Osteogensis 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 12(1) chain, which probably leads to the formation of abberantly processed triple helices.

AB - A heterozygous deletion of exon 9 in the COL1A2-mRNA of a patient with symptoms of both the Ehlers-Danlos-Syndrome and the Osteogensis 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 12(1) chain, which probably leads to the formation of abberantly processed triple helices.

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Feshchenko S, Brinckmann J, Lehmann HW, Koch HG, Müller PK, Kügler S. 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. Mutations in brief no. 166. Online. Human Mutation. 1998 Dec 7;12(2). doi: 10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU17>3.0.CO;2-D

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. Mutations in brief no. 166. Online.

Abstract

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