In the article “Kosaki Overgrowth Syndrome: Report of a Family with a Novel PDGFRB Variant” [Mol Syndromol. 2022;13:38–44, DOI: 10.1159/000517978] by Mutlu Albayrak et al., the authors found that an incorrect version of Table 1 was given. The correct version of Table 1 is shown here:
Table 1.
Genetic and clinical characteristics of PDGFRB-associated patients with the KOGS/PS-KOGS overlapping phenotype
| Patients |
PI |
P2 |
P3 |
P4 |
P5 |
P6 |
P7 |
P8 |
P9 |
P10 |
P11 |
P12 |
P13 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| References | Index family | Pond et al., 2018 | Takenouchi et al., 2015 | Gawlinski et al., 2018 | Foster et al., 2020 | Minatogawa et al., 2017 | Zarate et al., 2019 | Foster et al., 2020 | |||||
| Genetics | |||||||||||||
| Nucleotide change | c.2567A>T | c.1996A>C | c.1751C>G | c.1696T>C | c.1477A>T | ||||||||
| Amino acid change | p.Asn856Ile | p.Asn666His | p.Pro584Arg | p.Trp566Arg | p.Ser493Cys | ||||||||
| Affected domain | TKD | JMD | TMD | ||||||||||
|
| |||||||||||||
| Age at diagnosis, years | 8 | 6 | 33 | 10 | 14 | 17 | 10 | 53 | 6 | 3 | 15 | 19 | 21 |
|
| |||||||||||||
| Gender | F | M | M | na | F | F | M | M | M | F | F | F | M |
| Growth pattern | |||||||||||||
| Macrosomic birth | − | − | − | + | − | − | + | − | − | − | − | − | − |
| Tall stature | − | − | − | + | + | + | + | + | + | + | + | + | + |
| Macrocephaly | − | − | − | + | − | − | + | − | − | + | + | + | |
| Overgrown hands and feet | + | + | + | − | + | + | + | + | + | − | + | + | |
|
| |||||||||||||
| Facial and cranial features | |||||||||||||
| Narrow frontal hairline | + | + | + | na | − | − | − | − | + | − | − | − | + |
| Prominent supraorbital ridge | + | + | + | + | + | + | + | + | + | − | + | + | + |
| Thick eyebrows | + | + | + | na | − | − | − | − | − | − | − | − | + |
| Synophrys | + | + | − | na | − | − | − | − | − | − | − | − | + |
| Down-slanting palpebral fissures | + | + | + | na | + | + | + | + | + | + | + | + | + |
| Malar flattening | + | + | + | na | + | + | + | + | + | − | + | + | − |
| Wide nasal bridge | + | + | + | + | + | + | + | + | + | + | + | + | + |
| Large tubular nose | + | + | + | na | + | + | + | + | + | − | + | + | − |
| Long philtrum | + | + | + | na | + | + | + | + | + | + | + | + | + |
| Thin upper lip | + | + | + | na | + | + | + | + | + | + | + | + | + |
| Pointed chin | + | + | + | na | + | + | + | + | + | + | + | + | + |
| Occipital prominence | + | + | + | na | + | + | − | − | − | − | + | − | − |
| Craniosynostosis | − | − | − | + | − | − | − | + | + | − | − | − | − |
| Scalloping of the cal varium | − | + | − | na | + | + | − | − | + | − | − | − | + |
| Sparse hair | − | − | − | + | − | − | − | + | − | − | + | − | − |
|
| |||||||||||||
| Skeletal features | |||||||||||||
| Thoracolumbar scoliosis | + | + | + | − | + | + | + | + | − | − | + | + | − |
| Bony expansion of the proximal phalanges | − | − | + | − | na | na | na | + | na | − | − | na | na |
|
| |||||||||||||
| Cutaneous findings | |||||||||||||
| Hyperelastic skin | − | − | − | − | + | − | + | + | + | − | + | + | − |
| Thin/soft/fragile skin | − | − | − | + | + | − | + | + | + | − | + | + | + |
| Hyperpigmentation | − | − | − | − | − | − | − | + | + | − | − | − | − |
| Wrinkled skin | − | − | − | + | − | − | − | − | − | − | + | − | + |
| Premature ageing | − | − | − | − | − | − | + | + | − | − | + | + | |
| Hypertrophic/dystrophic scars | − | − | − | − | − | − | − | + | − | − | + | − | − |
| Lipoatrophy | − | − | − | − | − | − | + | + | − | − | + | + | − |
| Café au lait spots | + | − | − | − | − | − | − | − | − | − | − | − | − |
|
| |||||||||||||
| Cardiovascular abnormalities | − | − | na | na | na | na | na | − | − | − | + | + | − |
| Neurologic findings | |||||||||||||
| Intellectual disability | − | − | − | − | na | + | − | − | − | + | − | − | − |
| Neurologic deterioration | − | − | − | − | + | + | + | − | − | − | + | + | − |
|
| |||||||||||||
| Brain imaging | |||||||||||||
| Posterior fossa enlargement | − | + | − | + | − | − | + | + | − | − | − | + | − |
| Periventricular white matter lesions | − | − | − | − | + | + | + | + | − | + | + | − | − |
| Cerebral vasculopathy | − | − | + | na | − | − | − | + | − | − | − | − | + |
|
| |||||||||||||
| Other findings | |||||||||||||
| Myofibroma | − | − | − | − | + | − | − | − | − | + | − | − | − |
| Joint contractures | − | − | − | + | − | − | + | + | + | − | − | − | − |
| Acro-osteolysis | − | − | − | + | − | − | − | − | − | − | − | − | − |
| Corneal pterygium | − | − | + | − | − | − | − | + | − | − | − | − | − |
KOGS, Kosaki overgrowth syndrome; PS, Penttinen syndrome; TKD, tyrosine kinase domain; JMD, juxtamembrane domain; TMD, transmembrane domain; na, not available.