Table 1 Patients harboring 8q21.3 proximal deletion < 4 Mb and encompassing RUNX1T1
ID | reported phenotype | array-CGH results [hg19] | size | protein coding genes |
|---|---|---|---|---|
Allanson 2012, pt. 6 (DECIPHER 2399) | short stature, speech an learning delay, Intellectual disability, prominent nasal bridge, mild pulmonary valve stenosis, minor facial anomalies | 8q21.3q22.1 (91,953,214-95,550,581)×1 | 3.4 Mb | NECAB1, C8orf88, TMEM55A, OTUD6B, LRRC69, SLC26A7, RUNX1T1, TRIQK, FAM92A1, RBM12B, TMEM67, PDP1, CDH17, GEM, RAD54B, FSBP, KIAA1429 |
Huynh 2012 | mild intellectual disability, learnin disability, short stature, minor facial anomalies | 8q21.3 (93,010,222-93,048,079)×1 dn | 38 Kb | RUNX1T1 partially involved |
DECIPHER 265010 | Intellectual disability | 8q21.3q22.1 (93,045,661-93,317,115)×1 inh from a parent with a similar phenotype | 271 Kb | RUNX1T1 partially involved |
DECIPHER 287719 | Intellectual disability | 8q21.3q22.1 (92,193,866-94,430,363)×1 | 2.2 Mb | LRRC69, SLC26A7, RUNX1T1, TRIQK |
our patient | atrial septal defeact, mild short stature, intellectual disability, speech and learning delay, minor facial anomalies, severe non-haemolitic anemia, sezure episodes | 8q21.3q22.1 (92,243,681-94,298,184)×1 | 2.1 Mb | SLC26A7, RUNX1T1, TRIQK |