AI Article Synopsis
- Otopalatodigital syndrome type 1 (OPD1) is an X-linked condition causing skeletal, auditory, and palate malformations, linked to a region on the X chromosome.
- A more severe version, called OPD2, is associated with additional serious anomalies and linked to a smaller region within the same chromosome.
- Research in a Maori family showed that female carriers of the disorder have uneven X chromosome inactivation, which may relate to how severely they show symptoms of the condition.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1226038 | PMC |
| http://dx.doi.org/10.1086/321280 | DOI Listing |
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