A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation

作者：Stora Samantha; Conte Martine; Chouery Eliane; Richa Sami; Jalkh Nadine; Gillart Anne Celine; de Joannis Anne Laure; Megarbane Andre^*

来源：European Journal of Medical Genetics, 2009, 52(5): 341-343.

DOI：10.1016/j.ejmg.2009.06.005

• Donnai-Barrow
• Mutation
• LRP2
• Dysmorphology
• Elderly

The facio-oculo-acoustico-renal syndrome (FOAR) is a rare autosomal recessive syndrome characterized by the presence of dysmorphic facial features, ocular anomalies, sensorineural hearing loss, and proteinuria. Diaphragmatic hernia, exomphalos, absent or abnormal corpus callosum, and myopia, can also be part of the syndrome. The disorder is caused by mutations of the LRP2 gene located on chromosome 2q23.3-q31.1. We hereby report the case of a 56-year-old female patient with typical FOAR features. Molecular study of the LRP2 gene revealed the presence of a novel splice-site mutation. In addition to what was reported in FOAR syndrome, this patient had a megadolichocolon complicated by a volvulus and a late-onset renal failure which necessitated hemodyalisis and renal transplantation. Reporting aging patients with genetic syndromes will provide information about their special needs and lead to improvements in their follow-up.

• 出版日期2009-10