Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

Table 1 Clinical features of CED patients carrying compound heterozugous variants in IFT140

Patient	1	2
Variant (DNA)	c.326 T > C + c.3454-488_4182 + 2588dup	c.1565G > A + + c.3454-488_4182 + 2588dup
Variant (protein)	p.(Leu109Pro) + p.Tyr1152_Thr1394dup	p.(Gly522Glu) + p.Tyr1152_Thr1394dup
Age at examination	3 years 6 months	14 months
Sex	male	male
Dolichocephaly	+	+
Craniosynostosis	+	–
Frontal bossing	+	+
Full cheeks	+	+
Broad nasal bridge	+	+
Long philtrum	+	+
Flat philtrum columns	+	–
Narrow mucus upper lip	+	+
Everted lower lip	+	–
Low set ears	+	+
Protruding ears	+	+
Narrow chest	+	+
Pectus excavatum	+	–
Short ribs	+	+
Wide ribs	+	+
Rhizomelic limb shortening	+	+
Short humeri	+	+
Short fibulae	+	+
Flattened epiphyses	+	+
Brachydactyly of fingers and toes	+	+
Overlapping toes	+	–
Joint laxity	+	+
Fine, sparse hair	+	+
Small teeth	+	+
Thin nails	+	+
Short nails	+	+
Protuberant abdomen	+	+
Progressive renal failure	+	+
Tubulointerstitial nephritis	+	+
Ophthalmological problems	Hyperopia, strabismus, nystagmus	Hyperopia
Recurrent respiratory infections	+	+
Intelligence	Normal	Normal
Motor development	Normal	Delayed (walking at 22 months)

ISSN: 1750-1172