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.

Downloads

Download data is not yet available.
Abstract
252
PDF
213
Cover JNPS

Downloads

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

License

Authors who publish with this journal agree to the following terms:

Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).