Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.
| Autor: | Mégarbané A; Department of Human Genetics, Gilbert and Rose-Marie Ghagoury School of Medicine, Lebanese American University, Byblos, Lebanon.; Institut Jérôme Lejeune, Paris, France., Hana S; Centre for Arab Genomic Studies, Dubai, United Arab Emirates., Mégarbané H; Department of Dermatology, Balamand University, Saint George Hospital, Beirut, Lebanon., Castro C; Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France., Baulande S; Génopole Campus 2, PartnerChip, Evry, France., Criqui A; Génopole Campus 2, PartnerChip, Evry, France., Roëckel-Trevisiol N; Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France., Dagher C; Department of Human Genetics, Gilbert and Rose-Marie Ghagoury School of Medicine, Lebanese American University, Byblos, Lebanon., Al-Ali MT; Centre for Arab Genomic Studies, Dubai, United Arab Emirates., Desvignes JP; Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France., Mahfoud D; Department of Radiology, Gilbert and Rose-Marie Ghagoury School of Medicine, Lebanese American University, Byblos, Lebanon., El-Hayek S; Centre for Arab Genomic Studies, Dubai, United Arab Emirates., Delague V; Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France. |
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| Jazyk: | angličtina |
| Zdroj: | Molecular syndromology [Mol Syndromol] 2021 Oct; Vol. 12 (6), pp. 342-350. Date of Electronic Publication: 2021 Aug 31. |
| DOI: | 10.1159/000517253 |
| Abstrakt: | We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exome sequencing studies performed on the 2 affected individuals and one obligate carrier revealed the presence of a homozygous c.503G>A (p.Arg168His) missense mutation in IRX5 in both sibs, not reported in any other family. Review of the literature and differential diagnoses are discussed. Competing Interests: The authors have no conflicts of interest to report. (Copyright © 2021 by S. Karger AG, Basel.) |
| Databáze: | MEDLINE |
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