Table 2.
Deleted genes in 7q21.3q31.1 potentially related to some frequent clinical features seen in other similar deletion cases
| Related to | Gene/protein | References |
|---|---|---|
| Brain/ID/DD | ACHE, ATXNL7, BHLHA15, COG5, GPC2, MLL5*, NPTX2, NRCAM, PNPLA8, RELN, SRPK2, SYPL1, TAC1, THAP5, TMEM130, VGF, NYAP1a | UCSC genome browser; Al-Hassnan et al. [2011]; Rymen et al. [2012]; DECIPHER ID 263273; Vincent et al. [2008]; Uliana et al. [2010] |
| Craniofacial alterations | MLL5*, PLOD3**, RELN | Al-Hassnan et al. [2011]; Salo et al. [2008] |
| Deafness/hearing loss | GJC3, LHFPL3, MLL5*, PLOD3**, SLC26A4, SLC26A5 | UCSC genome browser; ID 263273; Salo et al. [2008]; Albert et al. [2006] |
| Ocular abnormalities | CLDN15, CYP3A4, CYP3A43, CYP3A5, CYP3A7, HBP1, NRCAM, TAC1, TMEM130 | EMBL-EBI; Volotinen et al. [2011]; Lee et al. [2012]; Demyanenko et al. [2011]; Kennedy et al. [2012] |
| Heart/cardiac defects | MOSPD3, NPTX2, PNPLA8, SRPK2, THAP5 | UCSC genome browser; Pall et al. [2004] |
| Gastrointestinal alterations/growth retardation/short stature | CLDN15, MUC3A, MUCB, MUC17, MOGAT3 | UCSC genome browser; Wada et al. [2013] |
These associations were performed according to the gene functions and expression locations, gene/phenotype overlap with other cases, or previous association. Note that some genes may be linked to more than one clinical feature. Actually, some monogenic lesions were seemingly responsible for various clinical features (e.g. MLL5* or PLOD3**).
a
Deleted in an ISCA microdeletion case (ID nssv578204).