A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation.
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.
Stora
Samantha
S
Institut Jérôme Lejeune, Paris, France.
Conte
Martine
M
Chouery
Eliane
E
Richa
Sami
S
Jalkh
Nadine
N
Gillart
Anne-Céline
AC
Joannis
Anne-Laure de
AL
Mégarbané
André
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2; D003103:Coloboma / Q000235:genetics; D005123:Eye; D005145:Face / Q000002:abnormalities*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D026561:Low Density Lipoprotein Receptor-Related Protein-2; D008875:Middle Aged; D009154:Mutation; D011507:Proteinuria / Q000235:genetics; D013577:Syndrome
D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C476844:LRP2BP protein, human; D026561:Low Density Lipoprotein Receptor-Related Protein-2