KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome

BMC Medical Genetics

Table 1 Summary of clinical signs observed in patients with del17q21.31 (classical and larger sizes), KANSL1 mutations and KANSL1 disruption

	17q21.31 deletion Frequency (%)		KANSL1 mutations				KANSL1 disruption
	Classical [2]	Large^a	Zollino et al. [9]	Zollino et al. [9]	Koolen et al. [8]	Koolen et al. [8]	Moreno-Igoa et al.
	424 kb	502-810 kb	p.R606X	p.R929G fsX44	c.916C>T p.(Gln306^*)	c.1652+1G>A	t(1;17)
Age (years) at last observation			3	14	2, 11/12	13	17
Sex	9 M/13 F	6 M/4 F	F	F	F	F	F
Growth
Intrauterine growth retardation	27	10	+	-	-	-	-
Short stature	18	30					-
Microcephaly	5	-					-
Neurological features
Hypotonia	96	80	+	+	+	+	+
Failure to thrive		40	+	+	+	+	+
Developmental delay/intellectual disability	100	100	+	+	+	+	+
Speech disorder		50			+	+	+
Seizures		60	-	-	-	-	+
Engaging or amiable personality	89	50	+	+	+	+	-
Behavioral disorder		30					+
Facial dysmorphic features
Broad forehead	68	40	+	+	+		+
Long face	74	70	-	+			+
Short palpebral fissures	36	10			-	+	+
Upslanting palpebral fissures	68	70	+	+	+	+	+
Ptosis	50	-	-	-	-	-	+
Epicanthal folds	68	10	+	+	+	+	+
“Pear” shaped nose	82	40	+	+	+	+	+
Large nasal bridge		30	+	+			+
Bulbous nasal tip	95	90	+	+			+
Long philtrum		10	+	+			+
Cleft palate	9	-	-	-	-	-	-
High/narrow palate	50	10					-
Large/prominent ears	59	80	+	+			-
Broad chin	42	10	+	+	+	-	+
Ophthalmological features
Hypermetropia	36	-			-	+	-
Strabismo	45	10			-	+	-
Iris color defects (pale/heterochromia)	45	-	-	-	-	-	+
Congenital structural defects
Brain	38	60	-	-	-	-	+
Heart defects	27	30	-	-	-	+	+
Renal & urologic anomalies	32	50	-	-	-	-	+
Criptorchidism	78	67
Musculoskeletal features
Slender fingers/hands	61	20					+
Dislocation of the hip	27	30	-	+	-	+	-
Joint laxity		30	+	+	+	+	+
Pectus deformity	23	10	-	-	-	-	-
Kiphosis/Scoliosis	36	30	-	-	-	-	+
Skin, hair, teeth
Abnormal hair texture	55	30	+	+	+	+	+
Skin pigmentary abnormalities		50	-	-	-	+	+
Hipodontia		20					+

^aBased on description of 10 individuals with large 17q21.31 deletions [3–5, 21–23]
“+”, presence of the clinical sign; “-”, absence of the clinical sign; “blank”, not assessed; “M”, male; “F”, female

ISSN: 1471-2350