MAGEL2 and OCA2 Dual Mutation In A Case Of Prader-Willi Syndrome

Authors

Anisha Jain, Topiwala National Medical College and B.Y.L Nair Charitable Hospital, Mumbai, IndiaFollow
Gulrej Shaikh, Topiwala National Medical College and B.Y.L Nair Charitable Hospital, Mumbai, IndiaFollow
Santosh Kondekar, Topiwala National Medical College and B.Y.L Nair Charitable Hospital, Mumbai, IndiaFollow
Surbhi Rathi, Topiwala National Medical College and B.Y.L Nair Charitable Hospital, Mumbai, IndiaFollow

Author ORCID Identifier

https://orcid.org/0009-0003-5104-5604

Corresponding Author

Gulrej Shaikh,

gulrej24@gmail.com

Abstract

Prader-Willi Syndrome (PWS) is an epigenetic disorder caused by the absence of paternal gene expression on chromosome 15q11-q13. It typically presents with hypotonia, hyperphagia, obesity, and short stature. Oculocutaneous Albinism (OCA) is an autosomal recessive disorder characterized by hypopigmentation of the skin and hair, resulting from mutations in the OCA genes. Mutations in MAGEL2, a member of the melanoma-associated antigen gene (MAGE) protein family, often present with features of autism spectrum disorder and arthrogryposis. This case is notable for its presentation of dual OCA2 and MAGEL2 mutations, with an atypical phenotype of Prader-Willi Syndrome. We present a 9-year-old boy of Indian origin with intellectual developmental disability and remote symptomatic epilepsy. He exhibited an atypical phenotype, including fair skin, light-colored irises, microcephaly, carious misaligned teeth, kyphosis and generalized hypotonia. Whole-exome sequencing revealed a pathogenic heterozygous deletion of chromosome 15q11.2-q13.1, encompassing both MAGEL2 and OCA2 genes, diagnosed as Prader-Willi Syndrome. Any case of intellectual developmental disability, hypotonia, dysmorphic features and hypopigmentation should be evaluated for concurrent PWS locus-related genetic abnormalities, for comprehensive management of each case.

Publication Date

2024

Publisher

JSS Academy of Higher Education & Research

Conflict of Interest

none

Keywords

Prader-Willi Syndrome, Oculocutaneous albinism, Dual Mutation

Word Count

1006

Recommended Citation

Jain A, Shaikh G, Kondekar S, Rathi S. MAGEL2 and OCA2 Dual Mutation In A Case Of Prader-Willi Syndrome. Digital Journal of Clinical Medicine. 2024; 6(3): -. doi: https://doi.org/10.55691/2582-3868.1199

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