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

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

Patient12
Variant (DNA)c.326 T > C + c.3454-488_4182 + 2588dupc.1565G > A + + c.3454-488_4182 + 2588dup
Variant (protein)p.(Leu109Pro) + p.Tyr1152_Thr1394dupp.(Gly522Glu) + p.Tyr1152_Thr1394dup
Age at examination3 years 6 months14 months
Sexmalemale
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 problemsHyperopia, strabismus, nystagmusHyperopia
Recurrent respiratory infections++
IntelligenceNormalNormal
Motor developmentNormalDelayed (walking at 22 months)