J Korean Med Sci.  2012 Oct;27(10):1273-1277. 10.3346/jkms.2012.27.10.1273.

A Case of 9.7 Mb Terminal Xp Deletion Including OA1 Locus Associated with Contiguous Gene Syndrome

• Cho EH
• Kim SY
• Kim JK

• KMID: 1778839
• DOI: http://doi.org/10.3346/jkms.2012.27.10.1273

Abstract

Terminal or interstitial deletions of Xp (Xp22.2-->Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (CDPX1), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143). Here we present a case of a 13.5 yr old boy and sister with a same terminal deletion of Xp22.2 resulting in the absence of genes from the telomere of Xp to GPR143 of Xp22. The boy manifested the findings of all of the disorders mentioned above. We began a testosterone enanthate monthly replacement therapy. His sister, 11 yr old, manifested only Leri-Weill dyschondrosteosis, and had engaged in growth hormone therapy for 3 yr. To the best of our knowledge, this is the first report of a male with a 9.7 Mb terminal Xp deletion including the OA1 locus in Korea.

Keyword

Deletion Xp22 pter; Leri-Weill Dyschondrosteosis; Chondrodysplasia Punctata; Mental Retardation; Ichthyosis; Kallmann Syndrome; Ocular Albinism

MeSH Terms

Abnormalities, Multiple/*genetics
Adolescent
Child
Chromosome Deletion
*Chromosomes, Human, X
Eye Proteins/genetics
Female
Genetic Loci
Growth Hormone/therapeutic use
Humans
Male
Membrane Glycoproteins/genetics
Telomere/genetics
WAGR Syndrome/*diagnosis/genetics/therapy
Eye Proteins
Membrane Glycoproteins
Growth Hormone

Figure

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  Fig. 1 Clinical features of the male patient. (A) Ichthyosis of trunk. (B) Shortness of terminal phlanges.

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  Fig. 2 Clinical features of his sister: rhizomeric and mesomelic shortening of forearms.

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  Fig. 3 Forearm radiographies of the male patient (A) and his sister (B), showing Madelung deformity.

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  Fig. 4 Slit lamp photograph of defects in the pigmented iris epithelium.

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  Fig. 5 Funduscopic photographs showing defective fundus pigmentation with macular hypoplasia in both eyes. (A) Right, (B) Left eye.

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  Fig. 6 Physical map of the region Xp22.2-pterminal: High resolution microarray analysis revealed a terminal 9.7 Mb deletion at Xp22.2 resulting absence of genes from the telomere of Xp to GPR143 of Xp22.

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