Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis
Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development. These TGFb pathway-associated craniosynostosis syndromes include Loeys–Die...
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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2022/3239260 |
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| author | Jonas Gustafson Maria Bjork Conny M. A. van Ravenswaaij-Arts Michael L. Cunningham |
| author_facet | Jonas Gustafson Maria Bjork Conny M. A. van Ravenswaaij-Arts Michael L. Cunningham |
| author_sort | Jonas Gustafson |
| collection | DOAJ |
| description | Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development. These TGFb pathway-associated craniosynostosis syndromes include Loeys–Dietz syndrome (LDS) and Shprintzen–Goldberg syndrome (SGS). LDS and SGS have many similarities common to fibrillinopathies, specifically Marfan syndrome (MFS), which is caused by mutations in FBN1. Historically discriminating features of MFS from LDS and SGS are (1) the presence of ectopia lentis (the subluxation/dislocation of the ocular lens) and (2) the absence of craniosynostosis. Curiously, several instances of a seemingly novel syndrome involving only craniosynostosis and ectopia lentis have recently been reported to be caused by recessive mutations in ADAMTSL4, a poorly characterized gene as of yet. Here, we report on two new cases of craniosynostosis with ectopia lentis, each harboring recessive mutations in ADAMTSL4. We also discuss a proposed mechanism for the relationship between ADAMTSL4, FBN1, and TGFb pathway-related syndromes. |
| format | Article |
| id | doaj-art-d5aaa8b618f342bcaf2d01ac4e626ada |
| institution | DOAJ |
| issn | 2090-6552 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-d5aaa8b618f342bcaf2d01ac4e626ada2025-08-20T03:19:33ZengWileyCase Reports in Genetics2090-65522022-01-01202210.1155/2022/3239260Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia LentisJonas Gustafson0Maria Bjork1Conny M. A. van Ravenswaaij-Arts2Michael L. Cunningham3Seattle Children’s Research InstituteNärhälsan Ågårdsskogens VårdcentralUniversity of GroningenSeattle Children’s Research InstituteCraniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development. These TGFb pathway-associated craniosynostosis syndromes include Loeys–Dietz syndrome (LDS) and Shprintzen–Goldberg syndrome (SGS). LDS and SGS have many similarities common to fibrillinopathies, specifically Marfan syndrome (MFS), which is caused by mutations in FBN1. Historically discriminating features of MFS from LDS and SGS are (1) the presence of ectopia lentis (the subluxation/dislocation of the ocular lens) and (2) the absence of craniosynostosis. Curiously, several instances of a seemingly novel syndrome involving only craniosynostosis and ectopia lentis have recently been reported to be caused by recessive mutations in ADAMTSL4, a poorly characterized gene as of yet. Here, we report on two new cases of craniosynostosis with ectopia lentis, each harboring recessive mutations in ADAMTSL4. We also discuss a proposed mechanism for the relationship between ADAMTSL4, FBN1, and TGFb pathway-related syndromes.http://dx.doi.org/10.1155/2022/3239260 |
| spellingShingle | Jonas Gustafson Maria Bjork Conny M. A. van Ravenswaaij-Arts Michael L. Cunningham Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis Case Reports in Genetics |
| title | Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis |
| title_full | Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis |
| title_fullStr | Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis |
| title_full_unstemmed | Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis |
| title_short | Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis |
| title_sort | mechanism of disease recessive adamtsl4 mutations and craniosynostosis with ectopia lentis |
| url | http://dx.doi.org/10.1155/2022/3239260 |
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