Table 1.
Mutations in the LIPH gene in 14 families.
Table 2.
Sequences of assay primers/probes.
Figure 1.
Clinical features of 5 Japanese families with ARWH.
(a) Patient 2. (b) Patient 3. (c) Patient 10. (d) Patient 13. (e) Patient 14. All the affected individuals have features of ARWH, which is characterized by woolly hair on the scalp. Patient 2, with homozygous c.736T>A mutations. The hypotrichosis is notably mild, and the hair is longer than in the other patients. Patient 14, with homozygous c.742C>A mutations, has complete baldness. There were no notable differences in clinical features in patients other than these 4 cases.
Table 3.
Allele frequencies of the founder mutation in 819 Japanese controls.
Table 4.
SNPs for haplotype analysis with the LIPH c.736T>A and c.742C>A mutation.