Table 1 Genomic locations and phenotypes of nine families associated with deletion of DYNC1I1 and preserved DLX5/6
Family (authors and Reference number) | Genomic location (hg19) | Size of deletion (kb) | Phenotype | |
|---|---|---|---|---|
This case report | chr7: 93,389,222-96,579,845 | 3191 | Craniofacial dysmorphology, personality disorder, hearing loss, musculoskeletal disorder, inguinal herniae, mitral valve prolapse, without ectrodactyly | |
Tayebi et al. [7] family 1 | chr7:95,615,187-95,783,313 | 167 | SHFM | |
Tayebi et al. [7] family 2 | chr7:95,624,825-96,135,521 | 510 | SHFM, hearing loss | |
Tayebi et al. [7] family 3 | chr7: 95,667,046-95,872,044 | 205 | SHFM | |
Tayebi et al. [7] family 4 | chr7:95,693,341-95,862,369 | 169 | SHFM | |
Delgado and Velinov [3] | chr7:94,769,383-95,801,045 | 1000 | Two members | Intellectual disability, SHFM |
Two members | Intellectual disability, without SHFM | |||
Rattanasopha et al. [8] | N/A | 103 | Eight members | SHFM |
Two members | No abnormalities | |||
Lango Allen et al. [9] | N/A | 106 | SHFM, hearing loss | |
Kouwenhoven et al. [10] | N/A | 880 | Non-syndromic SHFM | |