Fig. 4: WDR83OS is mutated in the syndrome of intractable itching, hypercholanemia, dysmorphism, and intellectual disability. | Genetics in Medicine

Fig. 4: WDR83OS is mutated in the syndrome of intractable itching, hypercholanemia, dysmorphism, and intellectual disability.

From: Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants

Fig. 4

a Pedigree of family 7 with the syndrome of intractable itching, hypercholanemia, dysmorphism, and intellectual disability. b–d Facial dysmorphic features in the three affected siblings. e AgileMultiIdeogram showing a single region of homozygosity (ROH) on chr19:8201051–16183420. f Reverse transcription–polymerase chain reaction (RT-PCR) showing aberrant transcript with deletion of 105 bps (r.51_156del). g Sanger sequencing of WDR83OS showing the pathogenic variant at the DNA level. h Cartoon representation of WDR83OS (106 amino acids; the two transmembrane domains are highlighted). N.C. normal control, P patient

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