Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5589109 | European Journal of Medical Genetics | 2016 | 7 Pages |
Abstract
We report here a consanguineous Moroccan family with two affected siblingsa girl aged 18 and a boy of 15years. Clinical features, including learning disability, seizures and amelogenesis imperfecta, initially suggested a diagnosis of Kohlschutter-Tonz syndrome. However,a novel homozygous FAM20Cvariantc.676TÂ >Â A, p.(Trp226Arg) was identified in the affected siblings. Our report reinforces that Raine syndrome is compatible with life, and that mild hypophosphatemia and amelogenesis imperfecta are key features of the attenuated form.
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Authors
Siham Chafai Elalaoui, Nada Al-Sheqaih, Ilham Ratbi, Jill E. Urquhart, James O'Sullivan, Sanjeev Bhaskar, Simon S. Williams, Mustapha Elalloussi, Jaber Lyahyai, Leila Sbihi, Imane Cherkaoui Jaouad, Abdelhafid Sbihi, William G. Newman, Abdelaziz Sefiani,