An Early Presentation of a Genomic Variant of Mucopolysaccharidoses II in a Female Newborn Baby

Authors

  • - Ritesh Department of Paediatrics, ITFH Tajikistan
  • Harsh Mohinder Singh Base Hospital Barrackpore, North Parganas, West Bengal, India

DOI:

https://doi.org/10.3126/jnps.v38i3.27320

Keywords:

Blueberry muffin lesions, iduronate 2-sulfatase, missense mutation, Mucopolysaccharidoses II (OMIM 309900), female hunter syndrome

Abstract

Mucopolysaccharidoses II is a X-linked genetic disorder caused by the deficiency of lysosomal enzyme Iduronate sulfate sulfatase due to mutations of Iduronate 2-sulfatase (IDS) gene which results in accumulation of intralysosomal glycosaminoglycan. X inactivation and gene alterations are known to cause this entity in a female child. We report an unusual case of missense mutation of IDS gene in heterozygous variant with dominant expression in a female neonate presented in early newborn period with incurable severity. X- linked recessive (heterozygous) missense mutation of Exon 8 in IDS gene confirmed a case of Mucopolysaccharidoses II by Sanger sequencing.

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Published

2018-12-31

How to Cite

Ritesh, .-., & Singh, H. M. (2018). An Early Presentation of a Genomic Variant of Mucopolysaccharidoses II in a Female Newborn Baby. Journal of Nepal Paediatric Society, 38(3), 190–192. https://doi.org/10.3126/jnps.v38i3.27320

Issue

Vol. 38 No. 3 (2018)

Section

Case Reports

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