Table 3
Details of molecular defects associated with the specific diagnoses where examination of hair may be helpful
| Disorder | OMIM | Chromosome | Gene |
|---|---|---|---|
| Netherton | 256500 | 5q32 | Spink5; encodes LEKT1 |
| Menkes | 309400 | Xq12–q13 | ATP7A; encodes ATPase, Cu2+ transporting α polypeptide |
| Trichothio-dystrophy | 601675 | 19q13.2–q13.3 | ERCC2/XPD, ERCC3/XPB (rare); encode the 2 helicase subunits of transcription/repair vector TFIIH |
| Chediak-Higashi | 214500 | 1q42, 1q42.2 | Lysosomal trafficking regulator gene (LYST/CHS) |
| Griscelli type 1 Griscelli type 2 | 214450 607624 | 15q21 15q21 | MYO5A/RAB27A |
| Uncombable hair | 191480 | Not known | Not known |
| Monilethrix | 158000 | 12q13 | Keratin genes HB1 and HB6 |
| Loose anagen | 600628 | Not known | Not known |
