Table 1. Clinical summary of individuals with TRAIP mutations.
| Individual | Gender | Consanguinity | Ancestry | Nucleotide mutation |
Protein alteration |
Gestation (weeks) |
BWT (kg) SD |
Age (years) |
Height (cm) SD |
OFC (cm) SD |
Karyotype | Craniofacial features |
Clinical synopsis |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | F | NC | Italian | c.553C>T | p.Arg185* | 37 | 1.95 −2.7 |
5 | 85.9 −5.4 |
44 −6.5 |
46, XX | Microcephaly, scaphocephaly, long narrow face, micrognathia. |
IUGR; recurrent severe lower respiratory tract infections; delayed speech, 2 deceased siblings with similar phenotypes. |
| P2 | M | NC | English | c.553C>T | p.Arg185* | 32 | 1.2 −2.2 |
7 | 103.5 −3.9 |
40.7 −8.3 |
46, XY | Microcephaly, scaphocephaly, long narrow face, micrognathia. |
IUGR; recurrent severe lower respiratory tract infections; moderate global developmental delay; hypertrichosis. |
| P3 | M | 3rd cousin | Turkish | c.52C>T | p.Arg18Cys | 40 | 1.75 −2.9 |
3 | 80 −4.6 |
40.1 −8.1 |
46, XY | Microcephaly, long narrow face, micrognathia. |
IUGR; asthma; mild global developmental delay. |
All parents were demonstrated to be heterozygote carriers of the mutations identified, confirming appropriate segregation within the family. Age is shown in years at time of measurements. BWT, birth weight; SD, standard deviation from the population mean for age and sex; OFC, occipital frontal circumference; F, female; M, male; NC, non-consanguineous; IUGR, intrauterine growth restriction.