RiteshSingh, Harsh Mohinder2026-01-092026-01-092018https://hdl.handle.net/20.500.14572/4184Ritesh Department of Paediatrics, ITFH Tajikistan Harsh Mohinder Singh Base Hospital Barrackpore, North Parganas, West Bengal, IndiaAbstract: 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.en-USBlueberry muffin lesionsiduronate 2-sulfatasemissense mutationMucopolysaccharidoses II (OMIM 309900)female hunter syndromeArticle