Table 1.
Patients with craniosynostosis and ectopia lentis reported to date.
| Publication | Sex | Age CS | Age EL | Race/ethnicity | CS phenotype | EL phenotype | Gene affected | Nucleotide variant (s) | Protein variant (s) | Gnomad MAF |
| Patients described in this paper | ||||||||||
| Patient 1 | M | 1 mo | 4 mo | Caucasian | Bilateral coronal | Bilateral EL | ADAMTSL4 | c.767_786del, c.2177 + 3_2177 + 6delGAGT | p.Gln256Profs∗38, (intronic - splice acceptor deletion) | 0.001219, 0.000009137 |
| Patient 2+ | M | 5 mo | Birth | Swedish | Sagittal | Bilateral EL/P | ADAMTSL4 | c.767_786del, c.767_786del | p.Gln256Profs∗38, p.Gln256Profs∗38 | 0.001219 |
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| Previously published ADAMTSL4-associated CS/EL patients | ||||||||||
| [28] | M | ND | ND | Norwegian | Sagittal++ | EL/P | ADAMTSL4 | c.767_786del, c.767_786del | p.Gln256Profs∗38, p.Gln256Profs∗38 | 0.001219 |
| [27] | F | 10 wk | 10 mo | ND | Right coronal | Bilateral EL | ADAMTSL4 | c.767_786del, c.767_786del | p.Gln256Profs∗38, p.Gln256Profs∗38 | 0.001219 |
| [29, 32] | F | <2 yr | 3 yr | Dutch | Metopic | Bilateral EL | ADAMTSL4 | c.767_786del, c.2254C > T | p.Gln256Profs∗38, p.Gln752∗ | 0.001219, 0.000004059 |
| [29, 32] | F | 7 mo | 3 yr | Dutch | Sagittal | Bilateral EL | ADAMTSL4 | c.767_786del, c.2254C > T | p.Gln256Profs∗38, p.Gln752∗ | 0.001219, 0.000004059 |
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| Previously published, genotypically unsolved (non-Marfanoid) patients with CS/EL | ||||||||||
| [36] | M | <6 yr | 23 yr | ND | Coronal | Bilateral EL | Unknown | |||
| [35] | F | Birth | 4 mo | ND | Left coronal | Bilateral EL | Unknown | |||
| [33] | ND | <6 yr | <6 yr | Turkish | Parietal/tempoparietal | Bilateral EL | Unknown | |||
| [34] | M | <6 yr | <6 yr | French | Sagittal (scaphocephaly) | Bilateral EL | Unknown | |||
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| Previously published patients with CS/EL as features of early-onset Marfan syndrome | ||||||||||
| [26] | F | <7 yr | <7 yr | ND | Scaphocephaly with craniosynostosis | EL | FBN1 | c.3668G > A | p.C1223Y | Not listed |
| [25] | M | 8 mo | 6 yr | ND | Sagittal | Bilateral EL | FBN1 | c.3302G > A | p.Y1101C | Not listed |
M, male; F, female; ND, not described; CS, craniosynostosis; EL, ectopia lentis; EL/P, ectopia lentis et pupillae; MAF, minor allele frequency. Age indicates age at diagnosis of CS and EL, respectively. +Sister of patient 2 has the same genotype but presents only with EL/P. ++Detail ascertained through personal correspondence with author.