Table 2. .
Clinical Features of Patients with Mutations in RAB23[Note]
| Polydactyly(L/R) | |||||||||||||||||||
| ID | Sex | Genotype | Birth Weight(g) | Cranial Suture Fusiona | Hydrocephalus Requiring Shunt | CNS Malformation(s) | Postaxial Hand | Footb | Cutaneous Syndactylyc(H/F) | Biphalangeal Digitsc (H/F) | Talipes/Clubfoot | Umbilical Hernia | Cardiac Malformation | Urogenital Malformation | Other | Height(m) | Weight(kg) | Age (years) | Neurodevelopment |
| 3965 | M | p.[E48fsX7]+[E48fsX7] | 604d | M, S, and BC | Ventriculomegaly and hypoplastic corpus callosum | +/+ | PR/PR | H and F | H | + | − | − | − | Meckel diverticulum | |||||
| 3983 | F | p.[Y78fsX30]+ [Y78fsX30]e | 4,180 | MU | − | +/+ | +/+ | F | H | − | + | − | − | − | .74 | Obese | 1.1 | Not delayed at age 1.1 year | |
| 3961 | F | p.[C85R]+[L145X] | 4,260 | M and S | − | − | +/+ Broad R thumb | PR/PR | H and F | H | − | + | ASD/PDAf | − | 1.07 | 37.8 | 4.2 | Mild delay | |
| 3978 | F | p.[E137X]+[E137X] | 4,200 | M, S, BC, and UL | − | −/+ Thumb duplication | PR/PR | F | − | + | Heart murmur | − | Cleft palate | .83 | 14.0 | 2.6 | Grossly normal | ||
| 3980 | F | p.[E137X]+[E137X] | ∼5,000 | S and BC | − | +/+ Broad thumbs | C/C | F | − | − | − | − | 1.56 | 102 | 19 | Mild learning disability | |||
| 3593 (Family 1) | M | p.[L145X]+[L145X] | 5,500 | M, S, and BC | − | Enlarged 3rd and lateral ventricles | −/− | PR/PR | H and F | − | − | − | Bilateral cryptorchidism | Moderate conductive hearing loss | Intelligence quotient 68 at age 3 years | ||||
| 3589 (Family 1) | F | p.[L145X]+[L145X] | M, S, and BC | − | Moderate ventricular dilatation | −/+ | PR/PR | H and F | − | − | − | − | Moderate conductive hearing loss | Obese | Mild delay | ||||
| 3541 (Family 1) | M | p.[L145X]+[L145X] | M, S, BC, and BL | − | − | −/− | PR/PR | H and F | − | Periumbilical infection | Tetralogy of Fallot | − | |||||||
| 3624 (Family 2) | M | p.[L145X]+[L145X] | 5,000 | MU | + | Lumbar myelomeningocele, Chiari malformation, and hypoplasia of corpus callosum | −/− Broad thumbs | PR/PR | F | H | + | − | − | Bilateral cryptorchidism | Tibial bowing | Grossly normal | |||
| 3734 | F | p.[L145X]+[L145X]e | MU | − | Moderate ventricular dilatation | −/− Broad thumbs | C/C | F | HII and FII, III | − | + | Tetralogy of Fallot | − | − | 73.6 | 13.1 | |||
| 3947 | M | p.[L145X]+[L145X] | M and S | − | +/+ | PR/PR | H and F | H II and F | − | +g | − | Bilateral cryptorchidism | Hiatus hernia and genu valgum | Grossly normal | |||||
| 3971 | M | p.[L145X]+[L145X] | 6,240 | S | + | Frontotemporal hypoplasia and midline cyst | +/+ Bifid thumbs | PR/PR | H and F | H | + | − | − | Hypogonadism and low testosterone | Unerupted molars | 1.84 | 93 | 26 | Developmental quotient <69 |
| 3975 | M | p.[L145X]+[L145X] | Dolichocephaly | − | −/− | −/− | H and F | − | + | − | Inguinal hernia and lateral patellae | Normal | |||||||
| 3985 | F | p.[L145X]+[L145X] | 4,000 | M, S, and BC | − | − | −/− | C/C | H and F | − | − | + | − | − | − | 140.5 | 53.7 | 10.8 | Normal |
| 4008 | F | p.[L145X]+[L145X] | S | − | Large 3rd and lateral ventricles | −/− | PR/PR | H and F | − | − | − | − | − | Genu valgum and dental agenesis (2 premolar and 1 molar) | Obese | Grossly normal | |||
| 4009 | M | p.[L145X]+[L145X] | MU | + | −/− | C/PR | H and F | H | + | + | − | Bilateral cryptorchidism | − | Mild learning disability | |||||
| 4059 | M | p.[L145X]+[L145X] | 4,900 | M and BC | − | +/+ | PR/PR | H and F | H | − | − | − | R cryptorchidism and L inguinal testis | Genu valgum and subluxed patellae | Obese | Normal | |||
Note.— A blank cell indicates that information was not recorded.
a
M=metopic; S=sagittal; C=coronal; L=lambdoid; B=bilateral; U=unilateral; MU=multiple sutures.
b
PR=preaxial; C=central; PO=postaxial polydactyly.
c
H=hand; F=foot; roman numerals indicate specific digits affected.
d
Pregnancy terminated at 21 wk gestation.
e
Complete deletion of one allele was not formally excluded.
f
ASD=atrial septal defect; PDA=patent ductus arteriosus. Both closed spontaneously.
g
Large epigastric hernia.