Our study | Individual 1a | Individual 2a | Individual 3a | Individual 4a | Individual 5a | Individual 6b | Individual 7b | Individual 8b | Individual 9b | Individual 10c | Total | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC25A24 mutation | c.650G > A (p.Arg217His) | c.650G > A (p.Arg217His) | c.650G > A (p.Arg217His) | c.650G > A (p.Arg217His) | c.650G > A (p.Arg217His) | c.649G > T (p.Arg217Cys) | c.650G > A (p.Arg217His) | c.650G > A (p.Arg217His) | c.649G > T (p.Arg217Cys) | c.650G > A (p.Arg217His) | c.650G > A (p.Arg217His) | c.650G > A: c.649G > T = 9: 2 |
Mutation type | heterozygous, de novo | heterozygous, de novo | heterozygous, de novo | heterozygous, de novo | heterozygous, de novo | heterozygous, de novo | heterozygous, de novo | heterozygous, de novo | heterozygous, de novo | heterozygous, de novo | heterozygous, de novo | |
Sub-clinical classification | GCMS | GCMS | GCMS | GCMS | GCMS | GCMS | FFS | FFS | FFS | FFS | FFS | |
Sex | female | female | female | female | female | female | male | female | female | male | male | M: F = 3: 8 |
Ethnicity | Korean | Polish | Hungarian | German | Turkish | Northern European | Slovene | French | Spanish | Italian | Spanish | |
Age at last exam (or age at death) | 9 years | 5.5 years | 7 years | 5 years | (20 months) | 14 years | (6 months) | (7 months) | (7 h) | (20 h) | 15 years | 9.3 ± 4.3 years (6.6 ± 8.2 months) |
Gestational age | 32 weeks | 39 weeks | 36 weeks | 38 weeks | 39 weeks | 37 weeks | 34 weeks | 38 weeks | 35 weeks | 32 weeks | 35 weeks | 35.9 ± 2.5 weeks |
IUGR | + | + | – | + | + | + | + | + | + | + | + | 9/11 (82%) |
Birth weight | 1080 g | 2200 g | 2225 g | 1600 g | 1700 g | 1722 g | 1390 g | 1700 g | 800 g | 866 g | 1450 g | 1521.2 ± 472.5 g |
HC at birth | NK | 28 cm | NK | 29 cm | 29.4 cm | NK | 29 cm | 28.5 cm | 25.9 cm | 23 cm | 28 cm | 27.6 ± 2.1 cm |
Aged appearance | + | + | + | + | + | + | + | + | + | + | + | 11/11 (100%) |
Short stature | + | + | – | + | + | + | + | + | + | + | + | 9/11 (82%) |
Wrinkled and translucent skin | + | + | + | + | + | + | + | + | + | + | + | 11/11 (100%) |
Hypertrichosis | + | + | + | + | + | + | NK | NK | NK | + | + | 8/8 (100%) |
Coronal craniosynostosis | + | + | + | + | + | NK | + | NK | NK | + | + | 8/8 (100%) |
Brachycephaly | + | + | + | + | + | + | NK | NK | + | NK | – | 7/8 (88%) |
Large anterior fontanel | + | + | – | + | + | – | + | + | + | + | + | 9/11 (82%) |
Triangular face | + | + | NK | – | + | NK | + | + | + | + | + | 8/9 (89%) |
Midface hypoplasia | + | + | + | + | + | + | – | – | NK | NK | + | 7/9 (78%) |
Depressed nasal bridge | + | + | + | + | + | + | + | + | + | + | – | 10/11 (91%) |
Low hairlines | + | + | + | + | + | + | + | + | + | + | + | 11/11 (100%) |
Low set, dysplastic ears | + | – | + | + | + | + | + | + | + | + | + | 10/11 (91%) |
Micropthalmia | + | + | + | + | + | + | + | + | + | + | + | 10/11 (91%) |
Downslanting palpebral fissure | + | + | + | + | + | + | NK | NK | NK | NK | – | 6/7 (86%) |
Prognathia | + | + | + | – | + | + | NK | NK | NK | NK | + | 6/7 (86%) |
Short distal phalanges | + | – | – | + | + | + | + | + | + | + | + | 9/11 (82%) |
Hypoplastic nails | + | + | – | + | + | + | + | + | + | + | + | 10/11 (91%) |
Syndactyly | + | – | + | + | – | + | NK | NK | NK | – | – | 4/8 (50%) |
Cardiovascular abnormalities | + | NK | NK | + | + | + | + | + | – | – | + | 7/8 (75%) |
Hypoplastic external genitalia | – | + | + | + | + | + | – | NK | + | + | + | 8/10 (89%) |
Cryptorchidism | NA | NA | NA | NA | NA | NA | + | NA | NA | + | + | 3/3 (100%) |
Umbilical hernia | + | + | – | + | + | + | + | + | – | + | + | 9/11 (82%) |
Conductive hearing loss | + | – | – | + | + | + | NA | NA | NA | NA | NK | 4/6 (67%) |
Normal developmental outcome | + | + | + | +d | + | +d | NA | + | NA | NA | + | 8/8 (100%) |