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Expansion of ocular phenotypic features associated with mutations in ADAMTS18.
Chandra A, Arno G, Williamson K, Sergouniotis PI, Preising MN, Charteris DG, Thompson DA, Holder GE, Borman AD, Davagnanam I, Webster AR, Lorenz B, FitzPatrick DR, Moore AT. Chandra A, et al. JAMA Ophthalmol. 2014 Aug;132(8):996-1001. doi: 10.1001/jamaophthalmol.2014.940. JAMA Ophthalmol. 2014. PMID: 24874986
All 3 mutations are predicted to be pathogenic. CONCLUSIONS AND RELEVANCE: Mutations in ADAMTS18 are associated with ocular developmental abnormalities including microcornea, ectopia lentis, and early onset of cone-rod dystrophy. This report provides further evidenc …
All 3 mutations are predicted to be pathogenic. CONCLUSIONS AND RELEVANCE: Mutations in ADAMTS18 are associated with ocular developme …
The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.
Aldahmesh MA, Alshammari MJ, Khan AO, Mohamed JY, Alhabib FA, Alkuraya FS. Aldahmesh MA, et al. Hum Mutat. 2013 Sep;34(9):1195-9. doi: 10.1002/humu.22374. Epub 2013 Jul 19. Hum Mutat. 2013. PMID: 23818446
Consistent with the presumed pseudodominant inheritance in one of the original families, we show that MMCAT maps to a single autozygous locus on chr16q23.1 in which exome sequencing revealed a homozygous missense change in ADAMTS18. Direct sequencing of this gene in four a …
Consistent with the presumed pseudodominant inheritance in one of the original families, we show that MMCAT maps to a single autozygous locu …
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.
Aldahmesh MA, Khan AO, Mohamed JY, Alkuraya H, Ahmed H, Bobis S, Al-Mesfer S, Alkuraya FS. Aldahmesh MA, et al. J Med Genet. 2011 Sep;48(9):597-601. doi: 10.1136/jmedgenet-2011-100306. J Med Genet. 2011. PMID: 21862674
By filtering variants generated on exome sequencing using runs of autozygosity in this simplex case, the study identified ADAMTS18 as the only gene carrying a homozygous protein altering mutation. It was also shown that Adamts18 is expressed in the lens and retina i …
By filtering variants generated on exome sequencing using runs of autozygosity in this simplex case, the study identified ADAMTS18 as …
[A family with developmental glaucoma and microcornea due to novel ADAMTS18 gene mutations].
Liu XY, Tao YF, Mao YK, Chen ZJ, Wang Y, Hong YF, Fan N. Liu XY, et al. Zhonghua Yan Ke Za Zhi. 2024 Jan 11;60(1):78-83. doi: 10.3760/cma.j.cn112142-20231012-00134. Zhonghua Yan Ke Za Zhi. 2024. PMID: 38199772 Chinese.
This case report presents a family with developmental glaucoma accompanied by microcornea resulting from novel mutations in the ADAMTS18 gene. The index case involves a 5-year-old twin brother, who, during a routine examination, exhibited elevated intraocular pressure pers …
This case report presents a family with developmental glaucoma accompanied by microcornea resulting from novel mutations in the ADAMTS18 …
Maternal binge alcohol consumption leads to distinctive acute perturbations in embryonic cardiac gene expression profiles.
Abraham S, Lindo C, Peoples J, Cox A, Lytle E, Nguyen V, Mehta M, Alvarez JD, Yooseph S, Pacher P, Ebert SN. Abraham S, et al. Alcohol Clin Exp Res. 2022 Aug;46(8):1433-1448. doi: 10.1111/acer.14880. Epub 2022 Jun 22. Alcohol Clin Exp Res. 2022. PMID: 35692084
BACKGROUND: Excessive alcohol consumption during pregnancy is associated with high risk of congenital heart defects, but it is unclear how alcohol specifically affects heart development during the acute aftermath of a maternal binge drinking episode. ...CONCLUSIONS: These …
BACKGROUND: Excessive alcohol consumption during pregnancy is associated with high risk of congenital heart defects, but it is unclea …
The distinct ophthalmic phenotype of Knobloch syndrome in children.
Khan AO, Aldahmesh MA, Mohamed JY, Al-Mesfer S, Alkuraya FS. Khan AO, et al. Br J Ophthalmol. 2012 Jun;96(6):890-5. doi: 10.1136/bjophthalmol-2011-301396. Epub 2012 Mar 7. Br J Ophthalmol. 2012. PMID: 22399687
METHODS: Case series of Saudi children with previously documented homozygous mutations in COL18A1 or ADAMTS18. RESULTS: All eight children (4-15 years old; five families) had smooth (cryptless) irides, high myopia (-10 to -20 dioptres) and distinctive vitreo-retinal degene …
METHODS: Case series of Saudi children with previously documented homozygous mutations in COL18A1 or ADAMTS18. RESULTS: All eight chi …
No evidence for locus heterogeneity in Knobloch syndrome.
Aldahmesh MA, Khan AO, Mohamed JY, Levin AV, Wuthisiri W, Lynch S, McCreery K, Alkuraya FS. Aldahmesh MA, et al. J Med Genet. 2013 Aug;50(8):565-6. doi: 10.1136/jmedgenet-2013-101755. Epub 2013 May 10. J Med Genet. 2013. PMID: 23667181 No abstract available.