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Case Reports
. 2006;51(11):1030-1036.
doi: 10.1007/s10038-006-0049-6. Epub 2006 Sep 6.

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome

Milena Cau  1 , Maria Addis  1 , Rita Congiu  1 , Cristiana Meloni  1 , Antonio Cao  2 , Simona Santaniello  1 , Mario Loi  3 , Francesco Emma  4 , Orsetta Zuffardi  5   6 , Roberto Ciccone  5 , Gabriella Sole  2 , Maria Antonietta Melis  7
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Case Reports

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome

Milena Cau et al. J Hum Genet. 2006.

Abstract

In mammals, X-linked gene products can be dosage compensated between males and females by inactivation of one of the two X chromosomes in the developing female embryos. X inactivation choice is usually random in embryo mammals, but several mechanisms can influence the choice determining skewed X inactivation. As a consequence, females heterozygous for X-linked recessive disease can manifest the full phenotype. Herein, we report a family with extremely skewed X inactivation that produced the full phenotype of Lowe syndrome, a recessive X-linked disease, in a female. The X chromosome inactivation studies detected an extremely skewed inactivation pattern with a ratio of 100:0 in the propositus as well as in five out of seven unaffected female relatives in four generations. The OCRL1 "de novo" mutation resides in the active paternally inherited X chromosome. X chromosome haplotype analysis suggests the presence of a locus for the familial skewed X inactivation in chromosome Xq25 most likely controlling X chromosome choice in X inactivation or cell proliferation. The description of this case adds Lowe syndrome to the list of X-linked disorders which may manifest the full phenotype in females because of the skewed X inactivation.

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