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.