Fig. 1

Fig. 1 Clinical assessment of WDR44 variants.

a Photographs of subjects with WDR44 variants demonstrate common craniofacial features including high frontal hairline, upslanting palpebral fissure, smooth philtrum and thin upper lip vermilion in all patients with the exception of subject III:2 of family 9 harboring the c.2519A > G p.(N840S) who does not display major dysmorphism. Patients harboring the c.2291C > T p.(S764F) (Family 1) and c.1943A > G p.(D648G) (Family 4) variants also show long philtrum and mildly webbed neck. (b, c) Bar graph showing the distribution of the clinical and craniofacial features. Blue: presence of ciliopathy-related features. Gray: absence of ciliopathy-related features. Analysis for 11 patients (c). d Photos of hands showing digital abnormalities including brachydactyly in all showed patients, and camptodactyly of fifth fingers for patient with c.1943A > G p.(D648G) (family 4) and ulnar deviation in the patient harboring the c.2197C > T p.(R733*) variant (family 3). e Kidney ultrasound of patient with c.2291C > T p.(S764F) variant shows parapelvic cysts (red arrows). f Neuroimaging features of the affected subjects with normal control for comparison. Brain MRI with axial T2-weighted images showing mild simplified gyral pattern and faint T2-weighted hyperintensity of the deep fronto-parietal white matter (white empty arrows) in subject III:1 of Family 1 and IV:4 and IV:3 of Family 4. Brain MRI with axial T2 weighted images showing mild enlargement of the subarachnoid spaces (thin arrows) with white matter volume reduction and ventricular enlargement in subjects II:1 of Family 2, III:12 of Family 4, III:2 of Family 8, and III:2 of Family 9. g The schematic represents the WDR44 protein and its domains. The position of variants is indicated in the WDR domain. h Multiple sequence alignment analysis of WDR44 wild-type protein across species. The numbers represent the position of conserved amino acid residues that are altered in the patients. Source data are provided as a Source Data file. DD/ID/LD developmental delay/intellectual disability/learning disability, CSF cerebrospinal fluid.