Article
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
European journal of medical genetics - 1 Mar 2022
Agrawal Neha, Verma Gaurav, Saxena Deepti, Kabra Madhulika, Gupta Neerja, Mandal Kausik, Moirangthem Amita, Sheth Jayesh, Puri Ratna Dua, Bijarnia-Mahay Sunita, Kapoor Seema, Danda Sumita, H Sankar V, Datar Chaitanya A, Ranganath Prajnya, Shukla Anju, Dalal Ashwin, Srivastava Priyanka, Devi Radha Rama, Phadke Shubha R
Abstract excerpt
MPS II is an X linked recessive lysosomal storage disorder with multi-system involvement and marked molecular heterogeneity. In this study, we explored the clinical and molecular spectrum of 144 Indian patients with MPS II from 130 unrelated families. Clinical information was collected on a predesigned clinical proforma. Sanger method was employed to sequence all the exons and exon/intron boundaries of the IDS...
Topics
- Asian People
- Genotype
- Humans
- Iduronate Sulfatase
- Mucopolysaccharidosis II
- Mutation
- Phenotype