Table 1 Clinical features of the current patient and a previously reported patient with RAC1 variants adjacent to the Switch I region.
Our case | Individual 2a | |
|---|---|---|
Clinical information | ||
Gender | Male | Male |
Race | Japanese | European |
Age at examination | 30 weeks and 3 days of gestation | 9 years |
Height | 40 cm (0.10 SD) | 128 cm (− 2.5 SD) |
Weight | 1406 g (− 0.69 SD) | 24 kg (− 0.5 SD) |
Mutation (GenBank: NM_018890.4) | ||
Chromosome position (GRCh37/hg19) | chr7:6431565 | chr7:6431563 |
gDNA change | c.118T > C | c.116A > G |
Amino acid change | p.(Tyr40His) | p.(Asn39Ser) |
SIFT | 0 | 0 |
PolyPhen-2 | 0.731 | 0.999 |
CADD | 26.7 | 24.2 |
MutationTaster | Disease-causing | Disease-causing |
ACMG/AMP Guidelines (Criteria) | Likely pathogenic (PS2, PM1, PM2, PP3) | Pathogenic (PS3, PM1, PM2, PM6, PP3, PP4) |
Developmental and neurological findings | ||
Intellectual disability (degree) | NA | Yes (mild-moderate) |
Epilepsy | NA | No |
Hypotonia | NA | No |
Brain MRI abnormalities | ||
Not performed | Cerebellar abnormalities, Hypoplasia corpus callosum, Enlarged lateral ventricles, Enlarged fourth ventricle, Thin pons, Mega cisterna magna | |
Craniofacial dysmorphisms | ||
Low set ears | Yes | Yes |
Micrognathism | Yes | Yes |
Arched eyebrows | Yes | Yes |
Prominent nasal bridge | No | No |
Congenital abnormalities | ||
Cardiac abnormalities | PLSVC, TAPVR | No |
Tracheoesophageal malformation | Esophagobronchial fistula | No |
Skeletal abnormalities | Scoliosis, 10th thoracic vertebra hypoplasia; synostosis of 6th and 7th costa, tracheal aplasia | No |
Hand deformities | Polydactyly 1st digit on right-hand | No |
Other | ||
Neonatal feeding difficulties | Yes | Yes |
Other | Died on the first day after delivery Polyhydramnios | Recurrent pneumonia Eczema |
