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Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.

Abstract：

:Otopalatodigital syndrome type 1 (OPD1) is an X-linked semidominant condition characterized by malformations of the skeleton, auditory apparatus, and palate. Previous studies have established linkage to a 16-cM region of Xq27-q28. A proposed allelic variant of OPD1, termed "OPD2," is associated with a more severe, frequently lethal phenotype with visceral and brain anomalies in addition to skeletal, auditory, and palatal defects. We report linkage of the OPD2 phenotype to a 2-cM region of distal Xq28 in a Maori kindred, with a maximum multipoint LOD score of 3.31 between the markers DXS1073 and DXS1108. This provides support for allelism between OPD1 and OPD2 and reduces the size of the disease interval to 1.8-2.1 Mb. We also demonstrate that female carriers of this disorder exhibit skewed inactivation that segregates with the high-risk haplotype and may be inversely related to the severity with which they manifest features of the disorder.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Robertson SP,Walsh S,Oldridge M,Gunn T,Becroft D,Wilkie AO

doi

10.1086/321280

subject

Has Abstract

pub_date

2001-07-01 00:00:00

pages

223-7

issue

1

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)61462-1

journal_volume

69

pub_type

杂志文章

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