Non lethal Raine syndrome and differential diagnosis

作者：Chafai Elalaoui Siham; Al Sheqaih Nada; Ratbi Ilham; Urquhart Jill E; O' Sullivan James; Bhaskar Sanjeev; Williams Simon S; Elalloussi Mustapha; Lyahyai Jaber; Sbihi Leila; Cherkaoui Jaouad Imane; Sbihi Abdelhafid; Newman William G; Sefiani Abdelaziz

来源：European Journal of Medical Genetics, 2016, 59(11): 577-583.

DOI：10.1016/j.ejmg.2016.09.018

• Raine syndrome
• Kohlschutter-Tonz syndrome
• FAM20C gene

Raine syndrome is a rare autosomal recessive bone dysplasia characterized by characteristic facial features with exophthalmos and generalized osteosclerosis. Amelogenesis imperfecta, hearing loss, seizures, and intracerebral calcification are apparent in some affected individuals. Originally, Raine syndrome was originally reported as a lethal syndrome. However, recently a milder phenotype, compatible with life, has been described. Biallelic variants in FAM20C, encoding a Golgi casein kinase involved in biomineralisation, have been identified in affected individuals.
We report here a consanguineous Moroccan family with two affected siblingsa girl aged 18 and a boy of 15 years. Clinical features, including learning disability, seizures and amelogenesis imperfecta, initially suggested a diagnosis of Kohlschutter-Tonz syndrome. However, a novel homozygous FAM20Cvariantc.676T > 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.

• 出版日期2016-11