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Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus
Author(s) -
Bouloux PM. G.,
Kirk J.,
Munroe P.,
Duke V.,
Meindl A.,
Hilson A.,
Grant D.,
Carter N.,
Betts D.,
Meitinger T.,
Besser G. M.
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb04442.x
Subject(s) - steroid sulfatase , kallmann syndrome , albinism , biology , ichthyosis , genetics , locus (genetics) , gene mapping , endocrinology , medicine , gene , chromosome , steroid , disease , covid-19 , hormone , infectious disease (medical specialty)
We describe a pedigree in which four male members are affected by a contiguous gene abnormality involving the short arm of the X chromosome (Xp22.32). Bivariate flow cytometry of lymphoblastoid cell lines from two of these individuals and a normal male showed a 6–7 megabase deletion in affected males, and high resolution chromosomal G‐banding of an obligate heterozygote showed the deletion to reside in the Xp22.32 region. Affected members had X‐linked ichthyosis due to steroid sulphatase deficiency, Kallmann's syndrome, but no ocular albinism. In two out of four affected individuals studied, there was unilateral renal agenesis. Deletion analysis using the Xp22.32 markers MIC2, DXS31, DXS 89, GMGX9, DXS278, DXS143, and DXS9 showed that the deletion extended from DXS31 to DXS143 (inclusive). The absence of ocular albinism in this pedigree shows conclusively that the X‐linked ocular albinism gene resides proximal to the DXS 143 locus. Further, the inconstant association of unilateral renal agenesis with X‐linked Kallmann's syndrome, even when the latter is caused by a complete deletion of the gene, suggests that the absence of the X‐linked Kallmann gene can be compensated in renal development.