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Table 1 Patients harboring 8q21.3 proximal deletion < 4 Mb and encompassing RUNX1T1

From: A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign

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