Full UPF3B function is critical for neuronal differentiation of neural stem cells

Table 1 UPF3B mutations linked to neurodevelopmental disorders

	Mutation	Open Reading Frame	Phenotype	UPF3B protein
Family 1 [2]	674_677delGAAA ¹	Arg225fs20* ¹	FG syndrome (MIM 305450), subjects with autistic features
Family 2 [2]	867_868delAG ¹	Gly290fs2* ¹	Lujan-Fryns syndrome (MIM 309520)
Family 3 [2]	1288C > T ¹	Arg430* ¹	Lujan-Fryns syndrome, subjects with autistic features
Family 4 [2]	478 T > G ¹	Tyr160Asp ¹	non-syndromic XLID, subjects with autistic features	UPF3B-Asp160
Family T13 [3]	1081C > T ²	Arg361* ²	non-syndromic XLID
Family S98 [3]	1103G > A ¹	Arg368Gln ¹	Lujan-Fryns syndrome, also diagnosed as borderline ID with autism	UPF3B-Gln355 ²
Family N37 [3]	1136G > A ¹	Arg379His ¹	non-syndromic XLID	UPF3B-His366 ²
1 Family [1]	683_686delAAGA	Gln228fs18*	Childhood onset schizophrenia, ASD, ADHD
1 Family [4]	c697_698delAG	Arg233fs30*	Developmental delay, ASD
1 patient [5]	764G > A ¹	Arg255Lys ¹	schizophrenia	UPF3B-Lys255
1 Family [6]	1288C > T ¹	Arg430* ¹	non-syndromic XLID

¹Location of mutation based on UPF3B transcript variant 1/isoform 1 (GenBank:NM_080632; GenBank:NP_542199). ²Location of mutation based on UPF3B transcript variant 2/isoform 2 (GenBank:NM_023010; GenBank:NP_075386). Note that transcript variant 1 starts to deviate from transcript variant 2 at nucleotide 808, and isoform 1 from isoform 2 at amino acid 269. This difference is due to skipping of an exon (808–846) in the NM_080632 open reading frame

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