| Autor: |
Theisen A; Signature Genomic Laboratories, Spokane, Wash., Rosenfeld JA, Shane K, McBride KL, Atkin JF, Gaba C, Hoo J, Kurczynski TW, Schnur RE, Coffey LB, Zackai EH, Schimmenti L, Friedman N, Zabukovec M, Ball S, Pagon R, Lucas A, Brasington CK, Spence JE, Sparks S, Banks V, Smith W, Friedberg T, Wyatt PR, Aust M, Tervo R, Crowley A, Skidmore D, Lamb AN, Ravnan B, Sahoo T, Schultz R, Torchia BS, Sgro M, Chitayat D, Shaffer LG |
| Jazyk: |
angličtina |
| Zdroj: |
Molecular syndromology [Mol Syndromol] 2010; Vol. 1 (5), pp. 262-271. Date of Electronic Publication: 2011 May 18. |
| DOI: |
10.1159/000328405 |
| Abstrakt: |
Background: Deletions that encompass 2q31.1 have been proposed as a microdeletion syndrome with common clinical features, including intellectual disability/developmental delay, microcephaly, cleft palate, growth delay, and hand/foot anomalies. In addition, several genes within this region have been proposed as candidates for split hand-foot malformation 5 (SHFM5). Methods: To delineate the genotype-phenotype correlation between deletions of this region, we identified 14 individuals with deletions at 2q31.1 detected by microarray analysis for physical and developmental disabilities. Results: All subjects for whom detailed clinical records were available had neurological deficits of varying degree. Seven subjects with deletions encompassing the HOXD cluster had hand/foot anomalies of varying severity, including syndactyly, brachydactyly, and ectrodactyly. Of 7 subjects with deletions proximal to the HOXD cluster, 5 of which encompassed DLX1/DLX2, none had clinically significant hand/foot anomalies. In contrast to previous reports, the individuals in our study did not display a characteristic gestalt of dysmorphic facial features. Conclusion: The absence of hand/foot anomalies in any of the individuals with deletions of DLX1/DLX2 but not the HOXD cluster supports the hypothesis that haploinsufficiency of the HOXD cluster, rather than DLX1/DLX2, accounts for the skeletal abnormalities in subjects with 2q31.1 microdeletions. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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