Table 1.
Overview of homozygous genotypes and clinical characteristics
| Proband 1, family F1:IV-2 | Proband 2, family F2:V-3 | Proband 3, family F2:V-4 | Proband 4, family F2:V-8 | Proband 5, family F2:V-9 | Proband 6, family F3:II-1 | Proband 7, family F3:II-2 | Proband 8, family F4:II-1 | Number and % affected individuals | |
|---|---|---|---|---|---|---|---|---|---|
| Demographic features | |||||||||
| Age at last evaluation | 3 years 4 months | 17 years 5 months | 16 years | 17 years | 9 years | 1 year 6 months | 4 years | 1 year 9 months | N/A |
| Sex | female | female | female | male | female | male | female | female | N/A |
| Parental consanguinity | + | + | + | + | + | + | + | + | N/A |
| Ethnicity | Turkish | Pakistani | Pakistani | Pakistani | Pakistani | Pakistani | Pakistani | Saudi Arabic | N/A |
| Craniofacial dysmorphism | |||||||||
| Coarse face | + | + | − | + | + | + | + | + | 7/8 (87.5%) |
| Arched eyebrows | − | + | + | + | + | + | + | − | 6/8 (75%) |
| Proptosis | − | + | − | + | + | + | + | + | 6/8 (75%) |
| Downslanted palpebral fissures | + | + | − | + | + | − | − | + | 5/8 (62.5%) |
| Long eyelashes | + | + | + | + | + | + | + | unknown | 7/8 (87.5%) |
| Convex nasal ridge | − | + | + | + | + | + | + | + | 7/8 (87.5%) |
| Wide nasal bridge and broad tip | + | + | + | + | + | + | + | + | 8/8 (100%) |
| Sagging cheeks | + | + | − | + | + | + | + | + | 7/8 (87.5%) |
| Prominent nasolabial folds | + | + | − | + | + | + | − | + | 6/8 (75%) |
| Long philtrum | + | + | − | + | + | + | + | + | 7/8 (87.5%) |
| Thick lower lip vermillion | + | + | − | + | + | + | + | + | 7/8 (87.5%) |
| Highly arched palate | − | − | + | + | + | + | + | − | 5/8 (62.5%) |
| Connective tissue features | |||||||||
| Cutis laxa | + | + | + | + | + | + | + | + | 8/8 (100%) |
| Deep palmar creases | + | + | − | + | + | + | + | + | 7/8 (87.5%) |
| Inguinal hernia | + | + | − | + | + | + | − | − | 5/8 (62.5%) |
| Skeletal features | |||||||||
| Craniosynostosis | − | + | − | + | + | + | + | + | 6/8 (75%) |
| Short stature | + | + | + | + | + | + | + | + | 8/8 (100%) |
| Brachydactyly | + | + | + | + | + | + | + | − | 7/8 (87.5%) |
| Clinodactyly | + | + | − | + | + | + | + | + | 7/8 (87.5%) |
| Syndactyly | − | + | − | + | + | + | + | − | 5/8 (62.5%) |
| Joint hyperlaxity | + | − | − | − | − | + | + | + | 4/8 (50%) |
| Genua vara | + | − | − | − | − | + | − | + | 3/8 (37.5%) |
| Additional features | |||||||||
| Learning difficulties | − | + | + | − | + | − | − | unknown | 3/8 (37.5%) |
| Cardiac abnormalities | + | + | − | − | − | + | − | − | 3/8 (37.5%) |
| Hearing loss | − | + | − | + | + | − | − | − | 3/8 (37.5%) |
| Feeding problems/GER | − | − | − | − | − | + | + | + | 3/8 (37.5%) |
| Urological abnormalities | + | − | − | − | + | − | − | − | 2/8 (25%) |
| Molecular characteristics | |||||||||
| Gene | LTBP1 | LTBP1 | LTBP1 | LTBP1 | LTBP1 | LTBP1 | LTBP1 | LTBP1 | N/A |
| cDNA change | c.4844del | c.4431T>A | c.4431T>A | c.4431T>A | c.4431T>A | c.3991_3995del | c.3991_3995del | c.1342C>T | N/A |
| Protein change | p.Asn1615Ilefs∗23 | p.Cys1477∗ | p.Cys1477∗ | p.Cys1477∗ | p.Cys1477∗ | p.Thr1331Asnfs∗20 | p.Thr1331Asnfs∗20 | p.Gln448∗ | N/A |