Table 1.
Phenotypic and genotypic investigations in individuals with Marsolf syndrome and RAB3GAP2 variants
| Aligianis et al. (2006) (single family) | Handley et al. (2013) | Gumus (2018) (single family) | Current individual | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Individuals | IV-1 | IV-3 | K43 | K44.1 | K44.2 (sibling of K44.1) | P1 | P2 | P3 | P4 | |
| Sex | Male | Female | Male | Female | Female | Female | Female | Male | Female | Female |
| Reported age | 11 yr | 6 yr | 3.4 yr | 17 yr | 14 yr | 8 yr | 8 yr | 10 yr | 4 yr | 30 yr |
| Consanguinity | + | + | Not reported | + | + | + | + | + | + | No |
| RAB3GAP2 genotype | c.3154G > T p.(Gly1052Cys) homozygous | c.3154G > T p.(Gly1052Cys) homozygous | c.1276C > T p.(Arg426Cys) homozygous | c.1276C > T p.(Arg426Cys) homozygous | c.1276C > T p.(Arg426Cys) homozygous | c.1998 + 1G > A homozygous | c.1998 + 1G > A homozygous | c.1998 + 1G > A homozygous | c.1998 + 1G > A homozygous | c.1283C > A p.(Arg428Glu); c.387-2A > G (likely compound heterozygous) |
| Diagnosis | Martsolf | Martsolf | Martsolf | Martsolf | Martsolf | ?Martsolf | ?Martsolf | ?Martsolf | ?Martsolf | Martsolf |
| Birth weight | 1870 g | 3060 g | 1002 g | 2470 g | 2340 g | 1450 g | 1450 g | Not reported | Not reported | 1984 g |
| Postnatal growth retardation | + | + | + | + | + | − | − | − | − | Not recorded |
| Postnatal microcephaly | + | + | + | + | + | − | − | − | − | Not recorded |
| Developmental delay | − | − | + | + | + | − | − | − | − | + |
| Intellectual disability | − | − | Moderatea | Moderate | Moderate | − | − | − | − | Apparent intellectual disability |
| Age at walking | 3 yr | 3 yr | 3.6 yr | − | − | + | + | + | + | 2½ yr old |
| Speech delayed | 3 yr | 3 yr | + | − | − | + | + | + | + | 3 yr old |
| Microopthalmia | + | + | + | + | + | + | + | − | − | − |
| Bilateral congenital Cataracts | + | + | + | + | + | + | + | − | − | + |
| Optic nerve atrophy | − | − | Pale optic nerves | + | + | − | − | − | − | − |
| Hypotonia | + | + | + | + | + | − | − | − | − | − |
| Limb spasticity | + | + | + | + | + | + | + | − | − | − |
| Hypogonadism | + | Not reported | + | − | − | Not reported | Not reported | + | Not reported | + |
| Reproductive and genital phenotypes | Micropenis, cryptorchidism | Not reported | Cryptorchidism and micropenis | Normal | Normal | Not reported | Not reported | micropenis | Not reported | Delayed puberty and small ovaries and uterus |
| Reproductive endocrine biochemistry | Not reported | Not reported | Not reported | Not reported | None | None | None | None | None | LH 0.2 IU/L; FSH 0.8 IU/L |
| Estradiol: 13.3 pg/mL | ||||||||||
(?Martsolf) Possible Martsolf syndrome, (LH) luteinizing hormone, (FSH) follicle-stimulating hormone, (+) phenotype present, (-) phenotype absent.
a“Moderate mental retardation” was claimed by the authors, but no data were provided to support that conclusion.