A high-profile genetics journal published an article describing the mapping of a gene for the X-linked dominant disorder congenital generalized hypertrichosis.
Objective:
This article evaluates the data presented by Figuera et al. in their linkage-mapping study.
Methods:
The size of the candidate region defined by Figuera et al., the power of the data to identify candidate loci within the region, and the usefulness of the results for clinicians are evaluated.
Results:
The candidate region identified by Figuera et al. is extremely large, and these results will not be clinically useful.
Conclusion:
Despite what may have been presented in the lay press, identification of the gene for congenital generalized hypertrichosis is not imminent.
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References
1.
FigueraLEPandolfoMDunnePW. Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27.1. Nat Genet1995; 10:202–207.
2.
BaumeisterFAMEggerJSchildhauerMTStengel-RutkowskiS. Ambreas syndrome: Delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8)(pll.2;q22). Clin Genet1993; 44:121–128.
3.
BaleSJ. When genetics gets under your skin. J Cut Med Surg1996; 1:97–100.
4.
OttJ. Analysis of human genetic linkage. Baltimore: Johns Hopkins University Press, 1991:66.
5.
GusellaJFWexlerNSConneallyPM. A polymorphic DNA marker genetically linked to Huntington's disease. Nature1983; 306:234–238.
6.
GailaniMRBaleSJLeffellDJ. Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell1992; 69:111–117.
7.
ReisAKusterWLinssG. Localization of the gene for the naevoid basal-cell carcinoma syndrome. Lancet1992; 339:617.
8.
FarndonPADel MastroRGEvansDGRKilpatrickMW. Location of gene for Gorlin syndrome. Lancet1992; 339: 581–582.
9.
JohnsonRLRothmanALXieJ. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science1996; 272:1668–1671.
10.
HahnHWickingCZaphiropoulosPG. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell1996; 85:841–851.
11.
Webster's Ninth New Collegiate Dictionary. Springfield, MA: Merriam-Webster, 1990.
