Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree
AIM: To explore the clinical feature and genetic etiology of a Chinese Knobloch syndrome family. METHODS: Ocular examinations and magnetic resonance imagings (MRIs) were performed on the family. Whole exome sequencing was conducted on the two patients. Sanger sequencing was utilized to validate the...
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| Format: | Article |
| Language: | English |
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Press of International Journal of Ophthalmology (IJO PRESS)
2018-06-01
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| Series: | International Journal of Ophthalmology |
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| Online Access: | http://www.ijo.cn/en_publish/2018/6/20180604.pdf |
| _version_ | 1818650247419658240 |
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| author | Lu-Si Zhang Hai-Bo Li Jun Zeng Yan Yang Chun Ding |
| author_facet | Lu-Si Zhang Hai-Bo Li Jun Zeng Yan Yang Chun Ding |
| author_sort | Lu-Si Zhang |
| collection | DOAJ |
| description | AIM: To explore the clinical feature and genetic etiology of a Chinese Knobloch syndrome family.
METHODS: Ocular examinations and magnetic resonance imagings (MRIs) were performed on the family. Whole exome sequencing was conducted on the two patients. Sanger sequencing was utilized to validate the presence of variation in the family as well as in 100 normal controls. Real-time quantitative polymerase chain reaction (PCR) was used to detect the expression level of COL18A1 in peripheral blood lymphocytes of the patients and normal carriers.
RESULTS: The affected subjects presented with vision loss, exotropia, cataracts, retinal detachment, and other complications. A homozygous c.4759_4760delCT (p.Leu1587ValfsX72) mutation (rs398122391) in COL18A1 was identified in the two patients, cosegregating with the phenotypes, and did not be detected in 100 normal controls. This mutation caused significant decreased expression of COL18A1 mRNA in the patients.
CONCLUSION: The findings strongly indicate that this mutation is the disease-causing mutation. Moreover, this is the first Knobloch syndrome pedigree reported in the Chinese population. |
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| format | Article |
| id | doaj.art-50ff3ad47b5f46e2a6992b821fa990e7 |
| institution | Directory Open Access Journal |
| issn | 2222-3959 2227-4898 |
| language | English |
| last_indexed | 2024-12-17T01:47:11Z |
| publishDate | 2018-06-01 |
| publisher | Press of International Journal of Ophthalmology (IJO PRESS) |
| record_format | Article |
| series | International Journal of Ophthalmology |
| spelling | doaj.art-50ff3ad47b5f46e2a6992b821fa990e72022-12-21T22:08:09ZengPress of International Journal of Ophthalmology (IJO PRESS)International Journal of Ophthalmology2222-39592227-48982018-06-0111691892210.18240/ijo.2018.06.04Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigreeLu-Si Zhang0Hai-Bo Li1Jun Zeng2Yan Yang3Chun Ding4Department of Ophthalmology, the Second Xiangya Hospital, Central South University, Changsha 410011, Hunan Province, China; Hunan Clinical Research Center of Ophthalmic Disease, Changsha 410011, Hunan Province, ChinaThe School of Life Sciences, Central South University, Changsha 410078, Hunan Province, ChinaDepartment of Ophthalmology, the Second Xiangya Hospital, Central South University, Changsha 410011, Hunan Province, China; Hunan Clinical Research Center of Ophthalmic Disease, Changsha 410011, Hunan Province, ChinaDepartment of Ophthalmology, the Second Xiangya Hospital, Central South University, Changsha 410011, Hunan Province, China; Hunan Clinical Research Center of Ophthalmic Disease, Changsha 410011, Hunan Province, ChinaDepartment of Ophthalmology, the Second Xiangya Hospital, Central South University, Changsha 410011, Hunan Province, China; Hunan Clinical Research Center of Ophthalmic Disease, Changsha 410011, Hunan Province, ChinaAIM: To explore the clinical feature and genetic etiology of a Chinese Knobloch syndrome family. METHODS: Ocular examinations and magnetic resonance imagings (MRIs) were performed on the family. Whole exome sequencing was conducted on the two patients. Sanger sequencing was utilized to validate the presence of variation in the family as well as in 100 normal controls. Real-time quantitative polymerase chain reaction (PCR) was used to detect the expression level of COL18A1 in peripheral blood lymphocytes of the patients and normal carriers. RESULTS: The affected subjects presented with vision loss, exotropia, cataracts, retinal detachment, and other complications. A homozygous c.4759_4760delCT (p.Leu1587ValfsX72) mutation (rs398122391) in COL18A1 was identified in the two patients, cosegregating with the phenotypes, and did not be detected in 100 normal controls. This mutation caused significant decreased expression of COL18A1 mRNA in the patients. CONCLUSION: The findings strongly indicate that this mutation is the disease-causing mutation. Moreover, this is the first Knobloch syndrome pedigree reported in the Chinese population.http://www.ijo.cn/en_publish/2018/6/20180604.pdf922Knobloch syndromeCOL18A1whole exome sequencing |
| spellingShingle | Lu-Si Zhang Hai-Bo Li Jun Zeng Yan Yang Chun Ding Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree International Journal of Ophthalmology 922 Knobloch syndrome COL18A1 whole exome sequencing |
| title | Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree |
| title_full | Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree |
| title_fullStr | Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree |
| title_full_unstemmed | Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree |
| title_short | Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree |
| title_sort | knobloch syndrome caused by homozygous frameshift mutation of the col18a1 gene in a chinese pedigree |
| topic | 922 Knobloch syndrome COL18A1 whole exome sequencing |
| url | http://www.ijo.cn/en_publish/2018/6/20180604.pdf |
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