Table 1 Phenotypes and genotypes of male patients with NAA10-related syndrome.
From: A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy
Author | Rope et al.3 | Casey et al.8 | Støve et al.4 | Saunier et al.9 | Ree et al.10 | Popp et al.6 | Esmailpour et al.5 | Cheng et al.2 | Johnston et al.7 | Johnston et al.7 | The present case | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Gender | Male | Male | Male | Male | Male | Male | Male | Male | Male | Male | Male | Male |
Variant | c.109 T > C | c.128A > C | c.215T > C | c.247C > T | c.248G > A | c.346C> T | c.471 + 2T > A | c.455_458del | c.*39A > G | c.*40A > G | c.*43A > G | c.455_458del |
Amino acid | p.Ser37Pro | p.Tyr43Ser | p.Ile72Thr | p.Arg83Cys | p.Arg83His | p.Arg107Phe | p.Glu157fs*45 | p.Thr152Argfs*6 | p.Thr152Argfs*6 | |||
Inheritance | Maternal | Maternal | Maternal | Maternal | Maternal | De novo | Maternal | Maternal | Maternal | Maternal | Maternal | Maternal |
Number of patients | 8 (2 families) | 2 (1 family) | 3 (2 families) | 1 | 2 (1 family) | 1 | 4 (1 family) | 1 | 5 (1 family) | 1 | 7 (1 family) | 1 |
Age at last investigation | 5–16 m | 20–25 y | 3–8 y | NA | 12–15 y | 5 y | NA | 11 y | NA | 8 m | NA | 4 y |
Birth weight (kg) | 1.5–3.3 | NA (normal) | 3.6–3.8 | 3.2 | 3.2–3.3 | NA (normal) | NA | NA | NA | NA | NA | 2.1 |
Growth failure | + | + | − | NA | + | + | + | + | NA | − | NA | + |
Neurological | Cerebral atrophy, hypotonia | Dilation of LV, hypotonia, seizures, | Medulloblastoma, mild PVL, relative paucity of frontal lobe, thin CC, | Hypotonia | Hypotonia, seizures | Hypotonia | ASCVD, seizure | hypotonia | NA | Chiari II malformation, hydrocephalus, myelomeningocele, spina bifida | Neural tube defect | Hypotonia |
Intellectual disability | + | + | + | NA | + | + | + | + | − | − | − | + |
Motor delay | + | NA | + | NA | + | + | + | NA | − | NA | + | |
Cardiac disorder | Arrhythmia, PAS, PDA, VSD | LQT, VT | HCM | HCM, PH, SVT | HCM | − | r VH | ASD | NA | − | NA | HCM, ASD, VSD |
Ocular disorder | Prominent eyes | r Amblyopia, astigmatism, r convergent squint | − | NA | Astigmatism | − | b Anophthalmia, microphthalmia | Microcornea, microphthalmia | u Anophthalmia, | u Phthisis bulbi | r Anophthalmia | Astigmatism, esotropia |
Facial feature | Flared nares, large ears, narrow palate | Downslanting palpebral fissures | High arched palate, rather thick lips, wide spaced teeth, | NA | Closely spaced eyes, tented upper lip | Deep set eyes, diastema, large ears, long eyelashes, prominent forehead | High arched palate, large abnormally formed ears | − | NA | Downturned corners of the mouth, widely spaced eyes | NA | Eyelid drooping, external ear anomaly |
Skeletal disease | Broad or widely spaced toes, clinodactyly, delayed osseous development, large fontanels, metatarsal valgus, scoliosis | b Acetabular dysplasia, b valgus deformity, scoliosis, toe syndactyly | Barrel chest, delayed closure of fontanelle | Hallux varus, sandal gap | − | − | Pectus excavatum, pes planus, scoliosis, toe syndactyly | Clubfeet, pectus excavatum, scoliosis, syndactyly | Six toes | Small feet with upturned nail | b 2–3 cutaneous syndactyly of toe | b Overlaps of toes |
Kidney and urinary system | Cryptorchidism | − | − | Small cortical cysts | − | Hypoplastic scrotum | Hypospadias | NA | Small penis, l VUR | Bifid scrotum, hypospadias | ||
Others | Inguinal hernia, died at <2 years | Congenital pneumonia, distended veins, inguinal hernia | Inguinal hernia | NA | Chronic constipation, sparse scalp hair | − | Agenesis of CC, craniosynostosis | Fair skin, l hearing loss |
