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This study identified the first two unrelated Thai patients with HLD10. Patient 1 harbored the novel compound heterozygous variants, c.257T&gt;G (p.Val86Gly) and c.400G&gt;A (p.Val134Met), whereas patient 2 possessed the homozygous variant, c.400G&gt;A (p.Val134Met), in\n                    <jats:italic>PYCR2<\/jats:italic>\n                    . Haplotype analysis revealed that the two families' members shared a 2.3\u00a0Mb region covering the c.400G&gt;A variant, indicating a common ancestry. The variant was estimated to age 1450\u2009years ago. Since the c.400G&gt;A was detected in three out of four mutant alleles and with a common ancestry, this variant might be common in Thai patients. We also reviewed the phenotype and genotype of all 35 previously reported\n                    <jats:italic>PYCR2<\/jats:italic>\n                    patients and found that majorities of cases were homozygous with a consanguineous family history, except patient 1 and another reported case who were compound heterozygous. All patients had microcephaly and developmental delay. Hypotonia and peripheral spasticity were common. Hypomyelination or delayed myelination was a typical radiographic feature. Here, we report the first two Thai patients with HLD10 with the novel\n                    <jats:italic>PYCR2<\/jats:italic>\n                    variants expanding the genotypic spectrum and suggest that the c.400G&gt;A might be a common mutation in Thai patients.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62365","type":"journal-article","created":{"date-parts":[[2021,5,26]],"date-time":"2021-05-26T06:29:06Z","timestamp":1622010546000},"page":"3068-3073","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Expanding the genotypic spectrum of\n                    <scp>\n                      <i>PYCR2<\/i>\n                    <\/scp>\n                    and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8961-7901","authenticated-orcid":false,"given":"Chawan","family":"Manaspon","sequence":"first","affiliation":[{"name":"Biomedical Engineering Institute Chiang Mai University  Chiang Mai Thailand"},{"name":"Genomics and Precision Dentistry Research Unit, Department of Physiology, Faculty of Dentistry Chulalongkorn University  Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2414-7010","authenticated-orcid":false,"given":"Ponghatai","family":"Boonsimma","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine Chulalongkorn University  Bangkok 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