TABLE 1.
Clinical findings and review of reported males with pathogenic variants in ALG13: Three patients with c.320A>G; p.(Asn107Ser) variant and 13 patients with 10 other variants.
| Galama et al. (2017) | Ng et al. (2020) | Proband | Timal et al. (2012) | Bissar‐Tadmouri et al. (2014) (4 siblings) | Hino‐Fukuyo et al. (2015) | Møller et al. (2016) | Gadomski et al. (2017) | Alsharhan et al. (2021) | Cai et al. (2022) | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ALG13 variant | c.320A>G; p.(Asn107Ser) | c.320A>G; p.(Asn107Ser) | c.320A>G; p.(Asn107Ser) | c.280A>G; p.(Lys94Glu) | c.3221A>G; p.(Tyr1074Cys) | c.880C>T; p.(Pro294Ser) | c.1641A>T; p(.Gln547His) | c.1388A>G; p.(E463G) | c.3013C>T; p.(Pro1005Ser) | c.2458‐15_2486del | c.2272G>T; p.(Val758Phe) | c.23 T>C; p.(V8A) | c.862C>G; p.(L288V) |
| Inheritance | De novo | De novo | De novo | NK (Maternal germline mosaicism or de novo) | Mother: unaffected carrier | Mother: unaffected carrier | Mother and grandmother: unaffected carriers | Mother: unaffected carrier | Mother: unaffected carrier | Mother: unaffected carrier | Mother: unaffected carrier | Mother: ID but no seizures | Mother: unaffected carrier |
| Age of seizure onset | 4.5 months | 7 months | 9 months | NR | − | 5 months | NR | 3 years | − | − | − | 9 months | − |
| Seizure type at onset evolution | Infantile spasms GTC | Infantile spasms focal | Infantile spasms focal | NR | − | Infantile spasms generalized + myoclonic | NR LGS | GTC | − | − | − | NR | − |
| Developmental delay | + | + | + | NR | − | + | + | + | + | + | − | + | + |
| ID | NR | + | + | NR | + | + | + | − | + | + | − | + | + |
| Visual abnormalities | + | NR | − | Bilateral optic atrophy, nystagmus | − | Bilateral optic atrophy, nystagmus | NR | NR | − | − | − | NR | Binocular strabismus |
| Hypotonia | + | NR | + | NR | − | NR | NR | + | − | − | − | NR | NR |
| Skeletal | Scoliosis Hemivertebra L1‐L2 | NR | Plagiocephaly; 13 sets of ribs, hypoplastic 1st ribs, posterior rib fusions; scoliosis, multiple vertebral body fusion | NR | − | NR | NR | Hypermobile joints | − | Bilateral postaxial polydactyly | − | NR | NR |
| Dysmorphic features | Underdeveloped R auricle; mild retrognathia | NR | Craniofacial dysmorphism; clinodactyly of thumbs + big toes | NR | − | NR | NR | Brachycephaly + dolichocephaly | − | − | Microcephaly | NR | NR |
| Recurrent infections | + | NR | + | + | NR | NR | NR | − | NR | NR | NR | NR | NR |
|
CDG transferrin isoforms Glycan isoforms |
Normal Near normal (6% lack of 1 glycan) |
NR |
Normal Normal |
Abnormal |
Not performed | NR | NR |
Normal Normal |
ND Normal |
ND Normal |
Normal ND |
NR | NR |
| MRI Brain abnormalities | + | + | + | NR | − | + | NR | + | ND | ND | Normal | + | + |
| MRI Brain findings | Corpus callosum hypoplasia + delayed myelination | Cerebral atrophy | Cerebral atrophy; Thinning corpus callosum; calcification in both hemispheres; dilated lateral ventricles | NR | Normal | Absence of septum pellucidum + posterior corpus callosum | NR | Non‐specific white matter changes | ND | ND | Normal | Protruding temporal angle of left lateral ventricle | Delayed myelination |
| Movement disorder | Choreiform movements | Dyskinetic movements | Purposeless movements of arms | Extra‐pyramidal signs | − | − | NR | NR | NR | NR | NR | NR | + |
| Other significant features | Hearing loss | NR | Complex CCHD; dilatation of central canal of spinal cord with syringohydromyelia | ASD; ADHD | ASD | Mild ataxia | |||||||
Abbreviations: CCHD: critical congenital heart disease; GTC: generalized tonic–clonic; ID: intellectual disability; ND: not done; NK: not known; NR: not reported.