Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome

Mutations in the serine/threonine kinase STK11 lead to Peutz-Jeghers syndro me (PJS) in a subset of affected individuals. Significant evidence for link age to a second potential PJS disease locus on 19q13.4 has previously been described in one PJS family (PJS07). In the current study, we investigated this second locus for PJS gene candidates. We mapped the main candidate gen e in this region, the gene for the transmembrane-type protein tyrosine phos phatase H (PTPRH), within 15 kb telomeric to the marker D19S880. We determi ned its genomic structure, and performed mutation analysis of all exons and the exon-intron junctions of the PTPRH gene in the PJS07 family. No diseas e causing mutation was identified in PTPRH in affected individuals, suggest ing the existence of an as yet not identified gene on 19q13.4 as a second P JS gene. Copyright (C) 2001 S. Karger AG, Basel.