Table 2 Patients with Noonan syndrome with variant c.1149 + 1G > T of LZTR1 in the literature
Literature | Age (years) | Sex | Hereditary form | Variant location | Nucleotide change | Amino acid change | Origin of variant | Phenotype | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Facial and physical features | Short stature | Cardiac defect | ECG | Others | ||||||||
Perin, F, et al. [11] | 4 | M | AR | Kelch 6 and BTB might be lost | c.1084C > T | p.R362* | MC | Broad forehead; hypertelorism; downward-slanting palpebral fissures; posteriorly rotated ears with a thickened helix; broad thorax with a webbed neck | NA | Severe HCM; mild PVS | Broad QRS complexes; RBBB; left axis deviation | NA |
Kelch 6 and BTB might be lost | c.1149 + 1G > T | Disrupts splice site | FC | |||||||||
Pagnamenta, A. T, et al. [7] | 6.8 | M | AR | BTB2 | c.2062C > T | p.R688C | De novo | Blue irides; downslanting palpebral fissures; convergent squinting; ptosis; hypertelorism; low-set, posteriorly rotated ears; pectus carinatum; wide neck; joint hypermobility; square thumb | + | NA | NA | Mild developmental delay and delayed speech and language development; hypermetropia; hyperacusis; hypotonia |
Kelch 6 and BTB might be lost | c.1149 + 1G > T | Disrupts splice site | ||||||||||
Johnston, J. J, et al. [8] | 2.1 | F | AR | Kelch 1–6 and BTB might be lost | c.27delG | p.Q10fs | FC | Prenatal polyhydramnios; depressed, broad nasal bridge; relative macrocephaly; nevus flammeus on forehead; midface retrusion with marked frontal bossing; high anterior hairline; nevus flammeus on forehead; downslanted palpebral fissures; bilateral epicanthus with widely spaced eyes; long philtrum; full, sagging cheeks; short neck; broad chest; relatively short arms and legs | NA | Levocardia; small ASD; patent foramen ovale | Fetal bradycardia | Hypotonic; Intestinal malrotation |
Kelch 6 and BTB might be lost | c.1149 + 1G > A | Disrupts splice site | MC | |||||||||
our study | 6.6 | F | AD | Kelch 6 and BTB might be lost | c.1149 + 1G > A | Disrupts splice site (donor) | MC | Hypertelorism; downslanting palpebral fissures; squinting; nystagmus; epicanthal folds; low-set, oval-shaped, posteriorly rotated ears, thick helix; short broad nose with a depressed root and full tip; deeply grooved and long philtrum; high and wide peaks of the vermilion; highly arched palate; micrognathia; short neck; cubitus valgus; scoliosis; pectus excavatum; café au lait spots; mild hypertrichosis | + | – | Frequent premature ventricular beats | Delayed psychomotor development; hemivertebra deformity; refractive errors |
2.5 | F | AD | Kelch 6 and BTB might be lost | c.1149 + 1G > A | Disrupts splice site (donor) | MC | hypertelorism; downslanting palpebral fissures; epicanthal folds; low-set, oval-shaped, posteriorly rotated ears with a thick helix; short broad nose with a depressed root and full tip; deeply grooved philtrum; high and wide peaks of the vermilion; highly arched palate; micrognathia; short neck; and pectus carinatum | + | – | – | – | |
27 | F | AD | Kelch 6 and BTB might be lost | c.1149 + 1G > A | Disrupts splice site (donor) | MC | hypertelorism; downslanting palpebral fissures; low-set, oval-shaped, posteriorly rotated ears with a thick helix; highly arched palate; and prominent nasolabial folds | – | – | – | – | |