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A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome.

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.

SUBMITTER: Cho EH

PROVIDER: S-EPMC3468769 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature

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A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome.

Cho Eun-Hae EH Kim Sook-Young SY Kim Jin-Kyung JK

Journal of Korean medical science 20121002 10

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 abs ...[more]

PMID: 23091330

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