Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series

Jezela-Stanek, Aleksandra; Ciara, Elżbieta; Stepien, Karolina M.

doi:10.3390/ijms21124564

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Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series

Aleksandra Jezela-Stanek

^1,†

Elżbieta Ciara

^2,†

and

Karolina M. Stepien

^3,*,†

Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, Poland

Department of Medical Genetics, The Children’s Memorial Heath Institute, 04-730 Warsaw, Poland

Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK

Author to whom correspondence should be addressed.

^†

These authors contributed equally to this work.

Int. J. Mol. Sci. 2020, 21(12), 4564; https://doi.org/10.3390/ijms21124564

Received: 31 May 2020 / Revised: 21 June 2020 / Accepted: 23 June 2020 / Published: 26 June 2020

(This article belongs to the Special Issue Genetic and Metabolic Molecular Research of Lysosomal Storage Disease)

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Abstract

Mucolipidosis type IV (MLIV) is an ultra-rare lysosomal storage disorder caused by biallelic mutations in MCOLN1 gene encoding the transient receptor potential channel mucolipin-1. So far, 35 pathogenic or likely pathogenic MLIV-related variants have been described. Clinical manifestations include severe intellectual disability, speech deficit, progressive visual impairment leading to blindness, and myopathy. The severity of the condition may vary, including less severe psychomotor delay and/or ocular findings. As no striking recognizable facial dysmorphism, skeletal anomalies, organomegaly, or lysosomal enzyme abnormalities in serum are common features of MLIV, the clinical diagnosis may be significantly improved because of characteristic ophthalmological anomalies. This review aims to outline the pathophysiology and genetic defects of this condition with a focus on the genotype–phenotype correlation amongst cases published in the literature. The authors will present their own clinical observations and long-term outcomes in adult MLIV cases. View Full-Text

Keywords: mucolipidosis type IV; MCOLN1; corneal clouding; gastrin; myopathy; neurodegenerative

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited

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Jezela-Stanek, A.; Ciara, E.; Stepien, K.M. Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series. Int. J. Mol. Sci. 2020, 21, 4564. https://doi.org/10.3390/ijms21124564

AMA Style

Jezela-Stanek A, Ciara E, Stepien KM. Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series. International Journal of Molecular Sciences. 2020; 21(12):4564. https://doi.org/10.3390/ijms21124564

Chicago/Turabian Style

Jezela-Stanek, Aleksandra, Elżbieta Ciara, and Karolina M. Stepien. 2020. "Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series" International Journal of Molecular Sciences 21, no. 12: 4564. https://doi.org/10.3390/ijms21124564

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Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series

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