Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome
Background: Geleophysic dysplasia and Weill-Marchesani syndrome from the acromelic dysplasias group of genetic skeletal disorders share remarkable clinical and genetic overlap.Methods: Ophthalmological, physical, radiological examinations were conducted with a female patient in her early 30 s. Whole...
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Frontiers Media S.A.
2022-09-01
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.1014188/full |
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| author | Mojiang Li Mojiang Li Mojiang Li Yingshu Li Huixing Liu Haiyan Zhou Wanqin Xie Qinghua Peng Qinghua Peng |
| author_facet | Mojiang Li Mojiang Li Mojiang Li Yingshu Li Huixing Liu Haiyan Zhou Wanqin Xie Qinghua Peng Qinghua Peng |
| author_sort | Mojiang Li |
| collection | DOAJ |
| description | Background: Geleophysic dysplasia and Weill-Marchesani syndrome from the acromelic dysplasias group of genetic skeletal disorders share remarkable clinical and genetic overlap.Methods: Ophthalmological, physical, radiological examinations were conducted with a female patient in her early 30 s. Whole exome sequencing followed by Sanger sequencing validation was performed to identify the genetic cause.Results: The patient, born to consanguineous Chinese parents, presented with microspherophakia, lens subluxation, high myopia, short statue, small hands and feet, stiff joints, and thickened skin. A diagnosis of Weill-Marchesani syndrome was initially made for her. However, genetic testing reveals that the patient is homozygous for the c.1966G>A (p.Gly656Ser) variant in ADAMTSL2, and that the patient’s healthy mother and daughter are heterozygous for the variant. As mutations in ADAMTSL2 are known to cause autosomal recessive geleophysic dysplasia, the patient is re-diagnosed with geleophysic dysplasia in terms of her genotype and phenotype.Conclusion: The present study describes the clinical phenotype of the homozygous ADAMTSL2 p. Gly656Ser variant, which increases our understanding of the genotype-phenotype correlation in acromelic dysplasias. |
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| language | English |
| last_indexed | 2024-04-11T11:17:46Z |
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| spelling | doaj.art-e2ded95696fe4286a5b38fe3aa7fb1822022-12-22T04:27:09ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-09-011310.3389/fgene.2022.10141881014188Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndromeMojiang Li0Mojiang Li1Mojiang Li2Yingshu Li3Huixing Liu4Haiyan Zhou5Wanqin Xie6Qinghua Peng7Qinghua Peng8Hunan University of Chinese Medicine, Changsha, ChinaThe First Affiliated Hospital of Hunan University of Chinese Medicine, Changsha, ChinaDepartment of Vision Center, Liuyang Jili Hospital (Liuyang Eye Hospital), Changsha, ChinaDepartment of Vision Center, Liuyang Jili Hospital (Liuyang Eye Hospital), Changsha, ChinaDepartment of Ophthalmology (Division II), Liuyang Jili Hospital (Liuyang Eye Hospital), Changsha, ChinaNational Health Committee Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, ChinaNational Health Committee Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, ChinaHunan University of Chinese Medicine, Changsha, ChinaThe First Affiliated Hospital of Hunan University of Chinese Medicine, Changsha, ChinaBackground: Geleophysic dysplasia and Weill-Marchesani syndrome from the acromelic dysplasias group of genetic skeletal disorders share remarkable clinical and genetic overlap.Methods: Ophthalmological, physical, radiological examinations were conducted with a female patient in her early 30 s. Whole exome sequencing followed by Sanger sequencing validation was performed to identify the genetic cause.Results: The patient, born to consanguineous Chinese parents, presented with microspherophakia, lens subluxation, high myopia, short statue, small hands and feet, stiff joints, and thickened skin. A diagnosis of Weill-Marchesani syndrome was initially made for her. However, genetic testing reveals that the patient is homozygous for the c.1966G>A (p.Gly656Ser) variant in ADAMTSL2, and that the patient’s healthy mother and daughter are heterozygous for the variant. As mutations in ADAMTSL2 are known to cause autosomal recessive geleophysic dysplasia, the patient is re-diagnosed with geleophysic dysplasia in terms of her genotype and phenotype.Conclusion: The present study describes the clinical phenotype of the homozygous ADAMTSL2 p. Gly656Ser variant, which increases our understanding of the genotype-phenotype correlation in acromelic dysplasias.https://www.frontiersin.org/articles/10.3389/fgene.2022.1014188/fullADAMTSL2geleophysic dysplasiaWeill-Marchesani syndromeacromelic dysplasiasmissense mutationmicrospherophakia |
| spellingShingle | Mojiang Li Mojiang Li Mojiang Li Yingshu Li Huixing Liu Haiyan Zhou Wanqin Xie Qinghua Peng Qinghua Peng Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome Frontiers in Genetics ADAMTSL2 geleophysic dysplasia Weill-Marchesani syndrome acromelic dysplasias missense mutation microspherophakia |
| title | Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome |
| title_full | Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome |
| title_fullStr | Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome |
| title_full_unstemmed | Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome |
| title_short | Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome |
| title_sort | case report a homozygous adamtsl2 missense variant causes geleophysic dysplasia with high similarity to weill marchesani syndrome |
| topic | ADAMTSL2 geleophysic dysplasia Weill-Marchesani syndrome acromelic dysplasias missense mutation microspherophakia |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.1014188/full |
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