Molecular analysis of an extended Palestinian family from Israel with monilethrix

We describe the molecular analysis of a large three generation Palestinian family segregating for monilethrix. Previous reports have shown that mutati ons in type-tl hair cortex keratin genes, hHb1 and hHb6, are associated wit h monilethrix. Genetic linkage analysis performed on this family using mark ers flanking the hHb6 gene exhibited strong evidence for linkage. Sequence analysis revealed a nucleotide substitution of G --> T at, nucleotide 1230 resulting in a glutamic acid to aspartic acid amino acid substitution at co don 410, identical to that reported in a French family. The family in our s tudy provides further evidence that mutations of the hHb6 gene are responsi ble for monilethrix.