BACKGROUND: Mutations in the fukutin-related protein gene account for a broad spectrum of phenotypes ranging from severe congenital muscular dystrophies to a much milder limb-girdle muscular dystrophy 2I. The involvement of the eyes is variable, with most patients having normal eye examination. OBJECTIVES: We describe eye and brain abnormalities in a 16 month-old-boy with Walker-Warburg syndrome phenotype resulting from a novel fukutin-related protein gene mutation in exon 4 and compare these with other reported patients with fukutin-related protein gene mutation. METHODOLOGY: All patients with reported fukutin-related protein gene mutations who had eye involvement were included. Their clinical features, brain magnetic resonance imaging, and eye findings were compared with our patient. CONCLUSIONS: Patients with fukutin-related protein gene mutation tend to have no or mild eye involvement (generally strabismus), with very few cases reported of moderate to severe eye involvement. Our patient with a novel mutation c.558dupC(p.Ala187fs) represents one of the most severe phenotypes described in regard to eye involvement.
BACKGROUND: Mutations in the fukutin-related protein gene account for a broad spectrum of phenotypes ranging from severe congenital muscular dystrophies to a much milder limb-girdle muscular dystrophy 2I. The involvement of the eyes is variable, with most patients having normal eye examination. OBJECTIVES: We describe eye and brain abnormalities in a 16 month-old-boy with Walker-Warburg syndrome phenotype resulting from a novel fukutin-related protein gene mutation in exon 4 and compare these with other reported patients with fukutin-related protein gene mutation. METHODOLOGY: All patients with reported fukutin-related protein gene mutations who had eye involvement were included. Their clinical features, brain magnetic resonance imaging, and eye findings were compared with our patient. CONCLUSIONS:Patients with fukutin-related protein gene mutation tend to have no or mild eye involvement (generally strabismus), with very few cases reported of moderate to severe eye involvement. Our patient with a novel mutation c.558dupC(p.Ala187fs) represents one of the most severe phenotypes described in regard to eye involvement.
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Authors: G Talenti; C Robson; M S Severino; C A Alves; D Chitayat; H Dahmoush; L Smith; F Muntoni; S I Blaser; F D'Arco Journal: AJNR Am J Neuroradiol Date: 2020-10-29 Impact factor: 3.825
Authors: Neha R Dhoke; Hyunkee Kim; Sridhar Selvaraj; Karim Azzag; Haowen Zhou; Nelio A J Oliveira; Sudheer Tungtur; Carolina Ortiz-Cordero; James Kiley; Qi Long Lu; Anne G Bang; Rita C R Perlingeiro Journal: Cell Rep Date: 2021-07-13 Impact factor: 9.423