An Xp22 Microdeletion Associated with Ocular Albinism and Ichthyosis: Approximation of Breakpoints and Estimation of Deletion Size by Using Cloned DNA Probes and Flow Cytometry

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1989 Nov 1

PMID 2573275

Citations 12

Authors

R E Schnur

B J Trask

G van den Engh

H H Punnett

M KISTENMACHER

M A Tomeo

R E Naids

R L Nussbaum

Affiliations

Soon will be listed here.

Abstract

Ocular albinism of the Nettleship-Falls type (OA1) and X-linked ichthyosis (XI) due to steroid sulfatase (STS) deficiency are cosegregating in three cytogenetically normal half-brothers. The mother has patchy fundal hypopigmentation consistent with random X inactivation in an OA1 carrier. Additional phenotypic abnormalities that have been observed in other STS "deletion syndromes" are not present in this family. STS is entirely deleted on Southern blot in the affected males, but the loci MIC2X, DXS31, DXS143, DXS85, DXS43, DXS9, and DXS41 are not deleted. At least part of DXS278 is retained. Flow cytometric analysis of cultured lymphoblasts from one of the XI/OA1 males and his mother detected a deletion of about 3.5 million bp or about 2% of the X chromosome. Southern blot and RFLP analysis in the XI/OA1 family support the order tel-[STS-OA1-DXS278]-DXS9-DXS41-cen. An unrelated patient with the karyotype 46,X,t(X;Y) (p22;q11) retains the DXS143 locus on the derivative X chromosome but loses DXS278, suggesting that DXS278 is the more distal locus and is close to an XI/OA1 deletion boundary. If a contiguous gene deletion is responsible for the observed XI/OA1 phenotype, it localizes OA1 to the Xp22.3 region.

Citing Articles

Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature.

Baek W, Aypar U Case Rep Genet. 2017; 2017:9086408.

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Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis.

Elias P, Williams M, Choi E, Feingold K Biochim Biophys Acta. 2013; 1841(3):353-61.

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Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

Fang S, Guo X, Jia X, Xiao X, Li S, Zhang Q Mol Vis. 2008; 14:1974-82.

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Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism.

Elias P, Williams M, Holleran W, Jiang Y, Schmuth M J Lipid Res. 2008; 49(4):697-714.

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OA1 mutations and deletions in X-linked ocular albinism.

Schnur R, Gao M, Wick P, Keller M, Benke P, Edwards M Am J Hum Genet. 1998; 62(4):800-9.

PMID: 9529334 PMC: 1377018. DOI: 10.1086/301776.

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