In:
Molecular Syndromology, S. Karger AG, Vol. 1, No. 5 ( 2010), p. 262-271
Abstract:
〈 i 〉 Background: 〈 /i 〉 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). 〈 i 〉 Methods: 〈 /i 〉 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. 〈 i 〉 Results: 〈 /i 〉 All subjects for whom detailed clinical records were available had neurological deficits of varying degree. Seven subjects with deletions encompassing the 〈 i 〉 HOXD 〈 /i 〉 cluster had hand/foot anomalies of varying severity, including syndactyly, brachydactyly, and ectrodactyly. Of 7 subjects with deletions proximal to the 〈 i 〉 HOXD 〈 /i 〉 cluster, 5 of which encompassed 〈 i 〉 DLX1/DLX2 〈 /i 〉 , 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. 〈 i 〉 Conclusion: 〈 /i 〉 The absence of hand/foot anomalies in any of the individuals with deletions of 〈 i 〉 DLX1/DLX2 〈 /i 〉 but not the 〈 i 〉 HOXD 〈 /i 〉 cluster supports the hypothesis that haploinsufficiency of the 〈 i 〉 HOXD 〈 /i 〉 cluster, rather than 〈 i 〉 DLX1/DLX2 〈 /i 〉 , accounts for the skeletal abnormalities in subjects with 2q31.1 microdeletions.
Type of Medium:
Online Resource
ISSN:
1661-8769
,
1661-8777
Language:
English
Publisher:
S. Karger AG
Publication Date:
2010
detail.hit.zdb_id:
2546218-0
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