A new locus for hereditary gingival fibromatosis (GINGF2) maps to 5q13-q22

Gingival fibromatosis (GINGF) is an oral disorder characterized by enlargem ent of the gingiva. It occurs either as the sole phenotype or combined with other symptoms. Thus far, one GINGF locus has been mapped on chromosome 2, at 2p21, and a second possible locus has been mapped to 2p13. However, the genes responsible for this disorder have not been elucidated, We identifie d a four-generation Chinese GINGF family in which the disease manifests wit hin 1 year after birth. After exclusion of the two known GINGF loci in this family, we performed a genome-wide search to map the chromosome location o f the responsible gene. We identified a new locus, GINGF2, on chromosome 5q 13-q22 with a maximum two-point lod score of 4.31 at D5S1721 (theta = 0.00) . Haplotype analysis placed the critical region in the interval defined by D5S1491 and D5S1453. Within this region, calcium/ calmodulin-dependent prot ein kinase IV (CAMK4) is a strong candidate, (C) 2001 Academic Press.