Jt. Hecht et al., NONSYNDROMIC CLEFT-LIP AND PALATE - NO EVIDENCE OF LINKAGE TO HLA OR FACTOR-13A, American journal of human genetics, 52(6), 1993, pp. 1230-1233
Nonsyndromic cleft lip with or without cleft palate (CLP) is a common
craniofacial anomaly, the etiology of which is not known. Population s
tudies have shown that a large proportion of cases occur sporadically.
Recently, segregation analyses applied to CLP families have demonstra
ted that an autosomal dominant/codominant gene(s) may cause clefting i
n cases. Associations of autosomal dominant CLP and nonsyndromic cleft
palate (CP) with HLA and F13A genes on chromosome 6p have been sugges
ted previously. Linkage to these two areas on chromosome 6p were teste
d in 12 autosomal dominant families with CLP. With a LOD score of -2 o
r less for exclusion, no evidence of linkage was found to four chromos
ome 6p markers. Multipoint analysis showed no evidence of a clefting l
ocus in this region spanning 54 cM on chromosome 6p in these CLP famil
ies.