A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin
Abstract
:1. Introduction
2. Case Presentation
3. Discussion
4. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Reference | Parental Consanguinity | Origin | Syndactyly | DNA Nucleotide Change | Predicted Protein Change | Mutation Effect |
---|---|---|---|---|---|---|
Whyte et al., 2018 [10] | Yes | India | Yes | c.129C > G | p.Try43X | Nonsense |
He et al., 2016 [12] | Yes | China | Yes | (c.444_445TC > AA) in exon 2 | p.Cys148Ter | Premature stop codon |
Fayez et al., 2015 [8] | Yes | Egypt | Yes | c.87_88insC in exon 1 | p.Lys30GInfsTer3 | Frame shift |
Yagi et al., 2015 [27] | Yes | Turkey | Yes | c.371G > A (p.W124*) in exon 2 | pTrp124Ter | Nonsense |
Belkhribchia et al., 2014 [9] | No | Morocco | Yes | c.79C > T (p.Gln27*) in exon 1 | p.Gln27Ter | Nonsense |
Bhadada et al., 2013 [11] | No | India | Yes | c.296_297insC in exon 2 | (p.Val100fsX128) | Frame shift |
Piters et al., 2010 [1] | Yes | Turkey | No | (c.499T > C) in exon 2 | p.Cys167Arg | Missense |
Kim et al., 2008 [28] | No | Brazil | Yes | c.372G > A (Trp124X) exon 2 | p.Trp124Ter | Nonsense |
Balemans et al., 2001 [24] | NK | USA | NK | c.376C > T | p.Arg126Ter | Nonsense |
Balemans et al., 2001 [24] | Yes | Brazil | NK | c.372G > A (Trp124X) in exon 2 | p.Trp124Ter | Nonsense |
Brunkow at al., 2001 [13] | 6: Yes, 2: NK21: No | South Africa | NK | c.69C > T | p.Gln24Ter | Nonsense |
Tacconi et al., 1998 [6] | NK | Senegal | Yes | IVS1 + 3A > T | NK | Splice site |
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Ekhzaimy, A.A.; Alyusuf, E.Y.; Alswailem, M.; Alzahrani, A.S. A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin. Medicina 2022, 58, 202. https://doi.org/10.3390/medicina58020202
Ekhzaimy AA, Alyusuf EY, Alswailem M, Alzahrani AS. A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin. Medicina. 2022; 58(2):202. https://doi.org/10.3390/medicina58020202
Chicago/Turabian StyleEkhzaimy, Aishah A., Ebtihal Y. Alyusuf, Meshael Alswailem, and Ali S. Alzahrani. 2022. "A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin" Medicina 58, no. 2: 202. https://doi.org/10.3390/medicina58020202