Retinal involvement in two unrelated patients with Myhre syndrome.
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.
Unité Fonctionnelle de Génétique Médicale, Groupe Hospitalier Pitié Salpêtrière, APHP 47-83, boulevard de l'hôpital, 75651 Paris cedex 13, France.
Essam
E
Al Ageeli
Cyril
C
Mignot
Alexandra
A
Afenjar
Sandra
S
Whalen
Nathalie
N
Dorison
Michèle
M
Mayer
Blandine
B
Esteva
Béatrice
B
Dubern
Marta
M
Momtchilova
Jean-François
JF
Le Gargasson
Joseph
J
Bursztyn
Delphine
D
Héron
D000328:Adult; D002648:Child; D003456:Cryptorchidism / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D019066:Facies; D005260:Female; D006130:Growth Disorders / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D006984:Hypertrophy / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008607:Intellectual Disability / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D007592:Joint Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008266:Macula Lutea / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D051901:Smad4 Protein / Q000235:genetics
C497796:SMAD4 protein, human; D051901:Smad4 Protein