Mucolipidosis IV: Report of a Case with Ocular Restricted Phenotype Caused by Leaky Splice Mutation  

Oleh:

Dobrovolny, Robert ; Liskova, Petra ; Ledvinova, Jana ; Poupetova, Helena ; Asfaw, Befekadu ; Filipec, Martin ; Jirsova, Katerina ; Kraus, Josef ; Elleder, MIlan

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: American Journal of Ophthalmology (keterangan: ada di ClinicalKey) vol. 143 no. 04 (Apr. 2007), page 663.

Ketersediaan

Perpustakaan FK Nomor Panggil: A12.K.2007.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Purpose To confirm and define a molecular basis for a case of mucolipidosis type IV (ML IV) with an extremely atypical phenotype pattern. Design Observational case report of a patient with ML IV with disease progression restricted to ocular symptoms. Methods Complete ophthalmologic and neurologic examination. Ultrastructural examination of white blood cells, skin, conjunctiva, and corneal epithelium. The MCOLN1 gene was sequenced from cDNA and the proportion of splicing variants were assessed by quantitative allele-specific polymerase chain reaction. Results Absence of any neurological abnormalities. Retinal pathologic features were the main cause of visual disability: low visual acuity and cloudy corneas since 2 years of age, progressive decrease in visual acuity since the age of 9 years. Ultrastructural examination showed storage lysosomes filled with either concentric membranes or lucent precipitate in corneal and conjunctive epithelia and in vascular endothelium. Cultured fibroblasts were free of any autofluorescence. Sequencing of the MCOLN1 gene identified compound heterozygosity for D362Y and A?T transition leading to the creation of a novel donor splicing site and a 4-bp deletion from exon 13 at the mRNA level. Both normal and pathologic splice forms were detected in skin fibroblasts and leukocytes, with the normal form being more abundant. Conclusions The case of this patient with ML IV is unique and is characterized by a curious lack of generalized symptoms. In this patient, the disorder was limited to the eyes and appeared without the usual psychomotor deterioration. The resulting phenotype is the mildest seen to date.

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