Table. Novel PMG-Associated Genes Identified in This Cohort Listed by Individual.
| Individual code | Gene | Transcript | Nucleotide change | Protein change | Zygosity, inheritance pattern | PMG distributiona | Head circumference, z score (age) |
|---|---|---|---|---|---|---|---|
| PMG14801 | KIF26A | NM_015656.2 | c.2845C>T, c.4676C>T | p.Pro949Ser, p.Ala1559Val | Compound heterozygous, AR | PMG (by report) | 0.3 (30 y) |
| PMG20601 | PANX1 | NM_015368.4 | c.40G>C | p.Asp14His | Heterozygous, AD de novo | Perisylvian PMG, extensive bilateral (R > L) | −4.2 (1 y, 1 mo) |
| PMGSL101 | PANX1 | NM_015368.4 | c.110T>G | p.Met37Arg | Heterozygous, AD de novo | Extensive PMG bilateral (L > R) with closed lip schizencephaly in posterior left frontal lobe | −1.9 (6 y, 7 mo) |
| PMG24901 | PANX1 | NM_015368.4 | c.1013A>C | p.Asn338Thr | Heterozygous, AD de novo | R-sided PMG and global reduced WM volume | Unknown (10 mo) |
| PMG11701 | QRICH1 | NM_198880.3 | c.1150_1153del | p.Phe384GlnfsTer5 | Heterozygous, AD de novo | Perisylvian PMG, bilateral, more severe posteriorly | −2.3 (3 y, 6 mo) |
| PS5201 | QRICH1 | NM_198880.3 | c.304del | p.Val102PhefsTer144 | Heterozygous, AD de novo | Perisylvian PMG, bilateral, parieto-occipital predominance | Unknown |
| BFP903-905 | TMEM161B | NM_153354.5 | c.580G>A | p.Glu194Lys | Compound heterozygous, AR | Diffuse PMG, bilateral (neuropathologic examination) of BFP906, 903-905 similar clinical syndrome with no imaging | Unknown |
| c.362C>T | p.Thr121Ile | ||||||
| PMG12601 | SCN2A | NM_001040142.2 | c.2548C>G | p.Arg850Gly | Heterozygous, AD de novo | Posterior perisylvian PMG, bilateral (R > L) | 0.7 (15 mo) |
| PMG22701 | SCN2A | NM_001040142.2 | c.4919T>A | p.Ile1640Asn | Heterozygous, AD de novo | Posterior perisylvian PMG, bilateral | −0.7 (6 wk) |
| PMG19501 | SCN2A | NM_001040142.2 | c.1688G>A | p.Arg563His | Heterozygous | Cobblestone malformation, probable PMG (by report) | −4.3 (3 y, 5 mo) |
| PS4501 | MAN2C1 | NM_006715.4 | c.2612G>C, c.601-2A>G | p.Cys871Ser | Compound heterozygous, AR | Perisylvian PMG, bilateral (R > L) | −1.6 (1 mo) |
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; L, left; PMG, polymicrogyria; R, right; WM, white matter.
a
Unless otherwise stated, magnetic resonance imaging was used.