Table 1.

Comparison of all known TRAPPC11 and GOSR2 mutations

Genotype	Number of cases	Neurological phenotype	Muscle phenotype	Other features	References
TRAPPC11 c.2938G>A c.2938G>A	3	motor delay in one individual, otherwise normal	LGMD, CK up to ~ 2800	scoliosis, cataracts and esotropia each in one individual	Bogershausen et al. [9]
TRAPPC11 c.1287+5G>A c.1287+5G>A	5	epilepsy, developmental delay, ataxia, chorea, microcephaly, cerebral atrophy	myopathy, CK up to ~ 1200	short stature, exophoria in one individual	Bogershausen et al. [9]
TRAPPC11 c.1893+3A>G c.1893+3A>G	4	developmental delay, cerebral atrophy, medically refractory epilepsy	CMD, CK not reported, dystrophic appearance of biopsied muscle tissue	scoliosis, achalasia, alacrima	Koehler et al. [14]
TRAPPC11 c.513_516delTTTG c.2330A>C	2	moderate intellectual disability, ambulatory, seizures, MRI with mild atrophy	CMD, CK up to ~ 10,000; dystrophic biopsied muscle, abnormal dystroglycan staining	cataracts, significantly elevated ALT, mildly elevated AST, liver fibrosis	Fee et al. [15]
TRAPPC11 c.2938G>A c.661-1G>T	1	developmental delay, decreased white matter volume on MRI	CMD, CK up to ~ 9000; abnormal signal in posterior compartment leg muscles on CT scan	hepatic steatosis, significantly elevated ALT, mildly elevated AST, cataracts	Liang et al. [13]
TRAPPC11 c.1141C>G c.3310A>G	1	microcephaly, brain atrophy on MRI, sensorineural hearing loss, peripheral neuropathy	presumed CMD, hypotonia, CK not reported	retrognathia, cholestatic liver disease, thrombocytopenia, nephropathy, osteopenia	Matalonga et al. [12]
TRAPPC11 c.851A>C c.965+5G>T	1	severe developmental delay, multifocal restricted diffusion on MRI; later cerebral atrophy	CMD, CK up to ~ 18,000; abnormal signal in posterior compartment leg muscles on MRI scan; dystrophic appearance of biopsied muscle; hypoglycosylation of α-dystroglycan	hepatic steatosis, significantly elevated ALT, mildly elevated AST; retinopathy, impaired NK cell function	This paper
GOSR2 c.430G>T c.430G>T	17	“North Sea” progressive myoclonus epilepsy; childhood-onset ataxia, loss of ambulation in early adulthood	CK up to ~ 2500 but normal in some; no specific abnormalities reported in muscle biopsies	scoliosis, pes cavus, syndactyly in some, delayed puberty in some	Lomax et al. [19], Egmond et al. [20], Corbett et al. [18]
GOSR2 c.430G>T c.491_493delAGA	1	progressive myoclonus epilepsy, ataxia; MRI with cerebral atrophy	none reported	none reported	Praschberger et al. [37]
GOSR2 c.430G>T c.2T>G	2	medically refractory epilepsy; MRI with cerebral atrophy	CMD, CK up to ~ 5000; dystrophic muscle biopsy with hypoglycosylation of α-dystroglycan; severe weakness and respiratory failure leading to death at 5 years in older sibling	no additional findings	This paper