Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 55, Issue 10, Pages 541-547Publisher
ELSEVIER
DOI: 10.1016/j.ejmg.2012.05.006
Keywords
Myhre syndrome; Mental retardation; Retinitis pigmentosa; Macular degeneration
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Myhre syndrome is a very rare condition described thirty years ago and related to mutations in the SMAD4 gene. It has been reported in 19 patients, including 13 males and 6 females before the recent finding of heterozygous mutations in the SMAD4 gene in 19 patients. It is characterized by mental retardation, short stature, muscle hypertrophy, limitation of joints movements, deafness, skeletal anomalies, and facial dysmorphism. Ophthalmological involvement includes hypermetropia and congenital cataract. We report here the new finding of retinal involvement including retinitis pigmentosa and maculopathy in two unrelated patients with Myhre syndrome. The patient with retinitis pigmentosa carried the p.I500T mutation in SMAD4, but no mutation was found in the patient with the maculopathy. (C) 2012 Published by Elsevier Masson SAS.
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