The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants

BMC Pediatrics

Table 1 Biallelic NUDT2 variants in 12 individuals and associated phenotypes

Fam	Case	Gender	Age	Zygosity	Allele1	Allele2	GDD	ID	HT	Impaired speech	Motor delay	MC	Facial dysmorphism	Brain abnormality on MRI	Neuropathy	References
A	1	Female	10y	Hom	Nonsense; c.34 C > T; p.Arg12*	Nonsense; c.34 C > T; p.Arg12*	+	+	+	+	+	ND	+	+	ND	Anazi et al.
A	2	Female	7y	Hom	Nonsense; c.34 C > T; p.Arg12*	Nonsense; c.34 C > T; p.Arg12*	+	+	+	+	+	ND	+	+	ND	Anazi et al.
B	3	Female	ND	Hom	Nonsense; c.34 C > T; p.Arg12*	Nonsense; c.34 C > T; p.Arg12*	+	+	+	+	+	+	+	+	ND	Yavuz et al.
B	4	Male	ND	Hom	Nonsense; c.34 C > T; p.Arg12*	Nonsense; c.34 C > T; p.Arg12*	+	+	+	+	+	+	+	+	ND	Yavuz et al.
B	5	Male	ND	Hom	Nonsense; c.34 C > T; p.Arg12*	Nonsense; c.34 C > T; p.Arg12*	+	+	+	+	+	+	+	+	ND	Yavuz et al.
C	6	Male	ND	Hom	Nonsense; c.34 C > T; p.Arg12*	Nonsense; c.34 C > T; p.Arg12*	+	+	+	+	+	+	+	+	ND	Yavuz et al.
D	7	Female	ND	Hom	Nonsense; c.34 C > T; p.Arg12*	Nonsense; c.34 C > T; p.Arg12*	+	+	+	+	+	+	+	+	ND	Yavuz et al.
E	8	Male	23y	Hom	Frameshift; c.186del; p.Ala63Glnfs*3	Frameshift; c.186del; p.Ala63Glnfs*3	+	+	ND	+	+		+		+	Diaz et al.
E	9	Female	10y	Hom	Frameshift; c.186del; p.Ala63Glnfs*3	Frameshift; c.186del; p.Ala63Glnfs*3	+	ND	ND	+	+		+	ND	+	Diaz et al.
F	10	Female	12y	Hom	Frameshift; c.186del; p.Ala63Glnfs*3	Frameshift; c.186del; p.Ala63Glnfs*3	+	ND	ND	+	+		+		+	Diaz et al.
G	11	ND	21y	Hom	Frameshift; c.186del; p.Ala63Glnfs*3	Frameshift; c.186del; p.Ala63Glnfs*3	+	+	ND	ND	+	ND	+	+	+	Maddirevula et al.
H	12	Female	5y	Com het	Nonsense; c.34 C > T; p.Arg12*	Missense; c. 194T > G; p. Ile65Arg	+	+	+	+	+		+	+	+	This report

Abbreviations: Fam, family identification; ND, not mentioned; y, years; Com het, compound heterozygous; Hom, homozygous; GDD, global developmental delay; ID, intellectual disability; HT, hypotonia; MC, microcephaly; MRI, magnetic resonance imaging. All the variants are described using the NM_001244390 (GRCh37/hg19) transcript and NP_001231319 protein of NUDT2.

ISSN: 1471-2431