Table 3. Clinical characteristics of the five probands and affected family members with TCF12 mutations.
| Family no. | Proband/family member (M) | Sex (M/F) | Referral diagnosis | TCF12 mutation | Affected sutures | Craniofacial phenotype | Neurodevelopmental features | Language developments | Hearing abilities | Brain anatomy (CT/MRI scan) | Other features and tests |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | P | M | SCS | p.(Asn200Leufsa4) | RC | Plagiocephaly, asymmetric face, low frontal hairline, down-slanting palpebral fissures, low-set ear, dental malocclusion. | Asperger Syndrome | N | N | Hypoplasia of the corpus callosum | Cafe-au-lait spots, transverse palmar crease, convergent strabismus, left accessory nipple, cryptorchidism and pilomatrixoma Fragile X (−), normal 60,000K aCGH |
| 2 | P | F | SCS | p.(Ser281a) | LC | Plagiocephaly, flat face, 1 craniofacial asymmetry, prominent horizontal helicis crus, dental malocclusion | ID, autism | Delayed language | Bilateral sensorineural hearing loss | Lateral ventricular asymmetry | FISH 22q11.2, 17p11.2 and 17q13 (−), Subtelomeric MLPA (−), Fragile X (−), normal metabolic tests and normal 60,000K aCGH |
| 3 | P | F | SCS | c.826-2A>G | BC/LL | Turribrachycephaly, flat face, frontal asymmetry, down-slanting palpebral fissures, hypertelorism. Dysmorphic ears (low implantation, large, profound shell, prominent tragus and helical crus) | N | NRb | N | N | |
| 4 | P | M | SCS | p.(Gln382a) | BC/MM | Turribrachycephaly, hypertelorism, cup-shaped ears | N | NRb | N | N | |
| 4 | FM | F | SCS | p.(Gln382a) | RC | Plagiocephaly, asymmetric face, dental malocclusion, right ear larger that left ear | N | N | N | NR | |
| 4 | FM | M | SCS | p.(Gln382a) | RC | Plagiocephaly | N | Delayed language | N | Ossification defects in the parietal bones, asymmetry of the middle cranial fossa | |
| 4 | FM | M | a | p.(Gln382a) | ND | Mild cranial deformation | NR | NR | NR | NR | |
| 5 | P | F | MS | p.(Leu507Arg) | LC | Plagiocephaly, flat face, asymmetric face, dental malocclusion | N | N | N | N | Cutaneous syndactyly |
| 5 | FM | M | N | p.(Leu507Arg) | — | Normal | N | N | N | NR |
Abbreviations: BC, bilateral coronal: F, female; FM, family member; ID, intellectual disability; LC, left coronal; LL, left Lamboid; M, male; MM, metopic; MS, Muenke syndrome; N, normal; NR, not reported; P, proband; RC, right coronal; SCS, Saethre–Chotzen syndrome.
a
Mild cranial deformation.
b
Too young to evaluate.