Clinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients

The pattern of variants recurrence in unrelated Egyptian patients highlights exons 6 and 8 as hot spots for first variant screening. The molecular findings of this study expand the SGSH variant spectrum and underline specific exons for first screening of MPS IIIA patients, which would largely help the early diagnosis and genetic counselling. To the best of our knowledge, the present study is the first delineating the SGSH variant profile in Egyptian Sanflippo A patients.