[Retracted] A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype

Table 1

13 variants in whole exome sequencing that were remaining after bioinformatic filtering.

Gene	Inheritance	Transcript	Exon/intron	Nucleotide alteration	Amino acid alteration	Chromosome position	Type	Disease’s name (OMIM)	Proband	Father	Mother
PPP2R5D	[1]/[2]AD	NM_006245.3	Exon5	c.620G>T	p.W207L	chr6:429; 75031	Nonsynonymous SNV	Mental retardation, autosomal dominant 35	Het	/	/
CREBBP	[1]/[2]AD	NM_004380.2	Exon31	c.6746_6757 del	p.R2249_Q2 252del	chr16:3778291-3778302:GCTGC; TGCATGC:-	Nonframeshift deletion	Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome 1	Het	Het	/
PROKR2	[1]AD	NM_144773.3	Exon3	c.889G>A	p.V297I	chr20:5282952:C:T	Nonsynonymous SNV	Hypogonadotropic hypogonadism 3 with or without anosmia	Het	Het	/
UBA5	[1]AR	NM_024818.4	Exon11	c.1076G>A	p.G359D	chr3:132394712: G:A	Nonsynonymous SNV	Spinocerebellar ataxia, autosomal recessive 24; epileptic encephalopathy, early infantile,; 44	Het	/	Het
YME1L1	1]AR; [2]AR	NM_139312.2	Exon5	c.551A>T	p.H184L	chr10:27431366: T:A	Nonsynonymous SNV	Optic atrophy 11	Het	Het	/
NBAS	[1]AR; [2]AR	NM_015909.3	Exon34	c.3938C>T	p.P1313L	chr2:15493828:G: A	Nonsynonymous SNV	Infantile liver failure syndrome 2; short stature, optic nerve atrophy, and Pelger-Huet anomaly	Het	Het	/
ARL13B	[1]AR	NM_182896.2	Exon2	c.106G>A	p.A36T	chr3:93714764:G:A	Nonsynonymous SNV	Joubert syndrome 8	Het	Het	/
ANK3	[1]AR	NM_020987.4	Exon37	c.6832A>C	p.K2278Q	chr10:61833807:T:G	Nonsynonymous SNV	Mental retardation, autosomal recessive, 37	Het	Het	/
MCEE	[1]AR	NM_032601.3	Exon2	c.275G>A	p.G92E	chr2:71351439:C:T	Nonsynonymous SNV	Methylmalonyl-CoA epimerase deficiency	Het	/	Het
UPB1	[1]AR	NM_016327.2	Exon2	c.142T>C	p.S48P	chr22:24896112:T:C	Nonsynonymous SNV	Beta-ureidopropionase deficiency	Het	Het	/
COL3A1	[1]AD; [2]AR	NM_000090.3	Exon21	c.1472G>A	p.R491Q	chr2:189859788:G:A	Nonsynonymous SNV	Ehlers-Danlos syndrome, vascular type; polymicrogyria with or without vascular-type EDS	Het	/	Het
WFS1	[1]AD; [2]AD; [3]AR; [4]AD; [5]AD	NM_006005.3	Exon4	c.400G>A	p.A134T	chr4:6290798:G: A	Nonsynonymous SNV	Cataract 41; deafness, autosomal dominant 6/14/38; Wolfram syndrome 1; Wolfram-like syndrome, 54,46,autosomal dominant; diabetes mellitus, noninsulin-dependent, association with	Het	Het	/
ESCO2	[1]AR; [2]AR	NM_001017420.2	Exon3	c.694C>T	p.R232C	chr8:27634519:C:T	Nonsynonymous SNV	Roberts syndrome; SC phocomelia syndrome	Het	/	Het

AD: autosomal dominant; AR: autosomal recessive; Het: heterozygous; Hom: homozygous; SNV: single nucleotide variants.