Clinical findings in individuals with LZTR1 variants
| Clinical findings | Brazil F3 | Brazil F4 | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Br-3.1 | Br-3.2 | Br-3.3 | Br-4.1 | Br-4.2 | Br-4.3 | Br-4.4 | Br-4.5 | Br-4.6 | |
| Proband | Mother | Grandfather | Proband | Mother | Half-sister | Brother | Sister | Half-sister | |
| Sex | Female | Female | Male | Female | Female | Female | Male | Female | Female |
| Age | 11 years 5 months | 45 years | 69 years | 14 years | 38 years | 16 years | 15 years | 12 years | 3 years 6 months |
| Perinatal data | |||||||||
| Gestational age | Term | Term | Term | Term | Term | ||||
| BW, g | 2270 | 2750 | 2850 | 2850 | 2790 | ||||
| Length, cm | 45 | 46 | 46 | ||||||
| Typical facial features | + | + | + | + | + | + | + | + | + |
| Current height | 131.5 cm | 147 cm | 156 cm | 146 cm | 151 cm | 158 cm | 153 cm | 135 cm (11 years) | 79 cm (3 years) |
| Height SDS for WHO-standard | −2.1 | −2.5 | −2.9 | −1.8 | −1.9 | −0.7 | −1.8 | −1.2 | −3.8 |
| Height SDS for NS-standard | 0.4 | −0.1 | 0.2 | 1.7 | 0.5 | 2.6 | 1.6 | 1.3 | −1.0 |
| Short/webbed neck | + | + | + | − | − | − | − | + | − |
| Pectus deformity | + | + | + | + | − | − | − | − | − |
| Cardiac abnormality | PVS/ASD | MVP | MVP | PVS | − | ND | − | − | − |
| GU abnormality | |||||||||
| Cryptorchidism | NA | NA | − | NA | − | NA | NA | ||
| Renal abnormality | − | − | − | − | |||||
| Abnormal hemostasis | − | − | + | + | − | − | ND | ||
| Prolonged ATTP | + | ||||||||
| Factor XI deficiency | + | − | |||||||
| Ophthalmological abnormality | + | ||||||||
| Funduscopy | − | ||||||||
| Prominent corneal nerves | + | ||||||||
| Ectodermal findings | − | − | − | − | − | − | + | + | − |
| Curly hair | − | − | − | − | − | − | + | + | − |
| Sparse eyebrows | − | − | − | − | − | − | + | − | − |
| Hyperkeratosis pilaris | − | − | − | − | − | − | + | − | − |
| Ulerythema ophriogenes | − | − | − | − | − | − | − | − | − |
| Tumours | − | − | − | − | − | − | − | − | − |
| Developmental delay | − | − | − | − | − | − | − | − | − |
| Learning disability | − | − | − | − | − | − | − | − | NA |
| Other findings | Lacrimal duct obstruction | Nevi | Nevi | Hemangioma | |||||
| Mutation (NM_006767.3) | c.742G>A; p.G248R | c.850C>T; p.R284C | |||||||
| Clinical findings | Brazil F5 | Brazil F6 | Poland F1 | |
|---|---|---|---|---|
| Br-5.1 | Br-5.1 | Po-1.1 | Po-1.2 | |
| Proband | Proband | Proband | Mother | |
| Sex | Male | Female | Male | Female |
| Age | 16 years 1 month | 30 years | 18 years | 53 years |
| Perinatal data | ||||
| Gestational age | 35 weeks | Term | Term | |
| BW, g | 2130 | 3930 | 4000 | |
| Length, cm | 47 | 52 | 53 | |
| Typical facial features | + | + | + | + |
| Current height, cm | 172.6 | 164 | 183 | 153 |
| Height SDS for WHO-standard | 0.3 | 0.1 | 1.0 | −1.6 |
| Height SDS for NS-standard | 3.9 | 3.2 | 3.9 | 0.9 |
| Short/webbed neck | − | − | + | + |
| Pectus deformity | − | − | + | − |
| Cardiac abnormality | PVS/ASD | LVH | MVI | AoCo |
| GU abnormality | ||||
| Cryptorchidism | + | NA | − | |
| Renal abnormality | − | − | − | − |
| Abnormal hemostasis | + | − | − | − |
| Prolonged APTT | + | |||
| Factor XI deficiency | − | |||
| Ophthalmological abnormality | + | − | − | Hyperopia |
| Funduscopy | − | − | − | |
| Prominent corneal nerves | + | |||
| Ectodermal findings | − | − | + | − |
| Curly hair | − | − | + | − |
| Sparse eyebrows | − | − | − | − |
| Hyperkeratosis pilaris | − | − | − | − |
| Ulerythema ophriogenes | − | − | − | − |
| Tumours | − | − | − | +* |
| Developmental delay | + | − | + | − |
| Learning disability | + | − | + | − |
| Other findings | Lymphedema, varicose veins | |||
| Mutation (NM_006767.3) | c.859C>T; p.H287+ | c.356A>G; p.+119C | c.740C>A; p.S247N | |
*Neurinomas of right hand and forearm, lipoma of thorax.
AoCo, aorta coarctation; APTT, activated partial thromboplastin time; ASD, atrial septal defect; BW, birth weight; GU, genitourinary; LVH, left ventricular hypertrophy; MVI, mitral valve insufficiency; MVP, mitral valve prolapse; NA, not applicable; ND, not done; NS, Noonan syndrome; PVS, pulmonary valve stenosis; SDS, SD score.