ZFIN Image: Shin et al., 2023, Fig. 1

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Fig. 1

A de novo mutation of UBE2h was found in a patient with neural development defects in the brain. A Pedigree of the present family. The proband has been indicated using an arrow. The affected male has been designated using the filled symbol (squares for males and circles for females). B Brain magnetic resonance imaging (MRI) scans of the patient with dolichocephaly. C The variant (c.449C>T, p.Thr150Met) was located in the UBC core domain of UBE2H and was perfectly conserved in four model species according to multiple sequence alignment analyses. D. IGV snapshot of the variant (c.449C>T, p.Thr150Met). E. Sanger sequencing confirmed a heterozygous missense variant (c.887A>G, p.Thr150Met) of the UBE2H gene (NM_001202498) that had been identified using whole-genome sequencing of the affected patient genome (II-1)

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