LETTER TO JMG

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

P S Hart¹, T C Hart², M D Michalec³, O H Ryu³, D Simmons⁴, S Hong⁴, J T Wright⁴

¹ NHGRI
² NIDCR
³ University of Pittsburgh
⁴ University of North Carolina

Correspondence to:
Correspondence to:
Professor J Timothy Wright
Brauer Hall CB 7450, Department of Pediatric Dentistry, School of Dentistry Chapel Hill, United States; tim_wright@dentistry.unc.edu

Revised version received 16 December 2003

Accepted 27 January 2004

Keywords: amelogenesis imperfecta; enamel; kallikrein 4; mutation; proteinase

The first 150 words of the full text of this article appear below.

Serine protease functionality is based on nucleophilic attack of a targeted peptidic bond by a serine. The serine protease superfamily is extremely diverse and includes proteases such as plasminogen, prostatin, hepsin, the kallikrein family (KLK genes clustered on chromosome 19.13), and a recently discovered cluster of tryptic-like serine proteases located on human chromosome 16p13.^1,2 Serine protease mutations have been reported as causative in only a few autosomal recessive human hereditary conditions, which produce diverse pathological conditions.^3,4 We report the first human kallikrein mutation and describe its association with a rare autosomal recessive form of amelogenesis imperfecta.

The amelogenesis imperfectas are a clinically and genetically heterogeneous group of disorders characterised by faulty development of the tooth enamel due to hypoplasia or hypomineralisation.⁵ The amelogenesis imperfecta phenotypes vary widely depending on the specific gene involved, the location and type of mutation, and the corresponding putative change at the protein level.^6,7 The . . . [Full text of this article]

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