Avanthi Urmila Steffie, Bale Govardhan, Aslam Mohsin, Talukdar Rupjyoti, Duvvur Nageshwar Reddy, Vishnubhotla Ravikanth Venkata
Asian Healthcare Foundation, 6-3-661, Somajiguda, Hyderabad, 500 076, India.
Asian Institute of Gastroenterology, 6-3-661, Somajiguda, Hyderabad, 500 076, India.
Indian J Gastroenterol. 2018 Jan;37(1):67-69. doi: 10.1007/s12664-018-0828-y. Epub 2018 Feb 23.
Mutations in PRSS1 gene namely R122H and N29I cause hereditary pancreatitis. They are autosomal dominant with a high penetrance (80%) reported in North American, North-east Asian, and North European ethnicities. However, the mutations are reportedly absent in Indian, African, and South American ethnicities. We report here for the first time a family from India that is positive for R122H mutation in the PRSS1 gene. The proband is symptomatic with chronic pancreatitis, however, the father although heterozygous for R122H is asymptomatic.
PRSS1基因中的R122H和N29I突变会导致遗传性胰腺炎。它们是常染色体显性遗传，在北美、东北亚和北欧种族中报道的外显率较高（80%）。然而，据报道，印度、非洲和南美种族中不存在这些突变。我们在此首次报告一个来自印度的家庭，其PRSS1基因的R122H突变呈阳性。先证者患有慢性胰腺炎，有症状表现，然而，其父亲虽然是R122H杂合子，但没有症状。
