Table 2.
Description of syndromic autism cases.
| Patient | Sex | Phenotype_summary | Gene | Mutation | dbSNP | Zygosity | Inherited/de novo | Associated syndrome (inheritance pattern) | ACMG |
|---|---|---|---|---|---|---|---|---|---|
| P1 | F | Mild ID, long face, low set ears, telecanthus, hypertelorism mammae, gothic palate, precocious puberty. | FMR1 | CGG repeat full mutant | N/A | HET | Unknown (parents not available for test) | Fragile X syndrome (XL) | P |
| P2 | M | Moderate ID, seizures, long face, low set large ears, prognathism, macroorchidism. | FMR1 | CGG repeat full mutant | N/A | HEMI | Inherited (from mother, anticipation) | Fragile X syndrome (XL) | P |
| P3 | M | Moderate ID, obsessive features, hand stereotypies, severely delayed speech, long face, low set, anteriorly rotated ears. | FMR1 | CGG repeat full mutant | N/A | HEMI | Inherited (from mother, anticipation) | Fragile X syndrome (XL) | P |
| P4 | M | Mild ID, frequent urinary tract infections, rectal prolapse, long face, low set anteriorly rotated ears, macroorchidism, micrognathia, impulsivity, mild tremor. | FMR1 | CGG repeat mosaicism for premutation and full mutation | N/A | HEMI | Unknown (parents not available for test) | Fragile X syndrome (XL) | P |
| P5 | M | Epileptic encephalopathy, ID, hypertelorism. | SCN1A | NM_001165963: c.4934G > A; p.R1645Q | rs121917976 | HET | De novo | Dravet syndrome (AD) | P |
| P6 | M | Mild hypotonia, failure to thrive, coloboma, low set ears, hypoplastic ears, atrial septum defect, severe ID, cryptorchidism, bifid nasal tips, micropenis, high lactate levels. | CHD7 | NM_017780: c.4822delA; p.R1608Gfs∗31 | . | HET | De novo | CHARGE syndrome (AD) | P |
| P7 | M | Low set ears, gothic palate, epicanthus, muscular dystrophy. | DMD | NM_004006: c.8713C > T; p.R2905X | rs128627256 | HEMI | Inherited (from mother) | Duchenne muscular dystrophy | P |
| P8 | F | ID, prognathia, mild ataxia, hand stereotypes. | MECP2 | NM_004992: c.763C > T; p.R255X | rs61749721 | HET | De novo | Rett syndrome (XLD) | P |
| P9 | F | Delayed psychomotor development, haemangioma, syndactyly, micrognathia, lower posterior hairline, anterior rotated, low set ears. | PTPN11 | NM_002834: c.1502G > A; p.R501K | rs397507543 | HET | Unknown (mother is wild-type, father is not available for test) | Noonan syndrome (AD) | LP |
| P10 | F | Delayed language development, seizures, EEG: temporal lobe origin. Hypertelorism mammae, short neck, round face, large ear, synophrys, telecanthus, long philtrum, low posterior hairline. | RELN | NM_005045: c.2015C > T; p.P672L | rs201044262 | HET | Inherited (from father) | Epilepsy, familial temporal lobe type 7 (AD) | LP |
| P11 | F | Lissencephaly, hypertelorism, seizures, severe ID, prominent forehead, microcephaly, low set ears. | RELN | NM_005045: c.4354G > A; p.D1452N | rs114446781 | HET | De novo | Lyssencephaly type 2 (AR) | LP |
| P12 | F | Autoagression. No malformation, no spasticity. Mother has no spasticity. | SPAST | NM_014946: c.1625A > G; p.D542G | rs142053576 | HET | Inherited (from mother) | Hereditary spastic paraparesis (AD) | VUS |
| P13 | M | ID, ataxia, upsplanting palpebral fissure, small tongue, everted and thick upper lip, depressed nasal bridge, epilepsy. | AUTS2 | NM_015570: c.2440GA > AT; p.E814M | . | HET | Unknown (mother is wild-type, father is not available for test) | Mental retardation 26 (AD) | VUS |
AD, autosomal dominant; AR, autosomal recessive; F, female; HEMI, hemizygous; HET, heterozygous; ID, intellectual disability; LP, likely pathogenic; M, male; P, pathogenic; VUS, variant of uncertain significance; XL, X-linked.