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Article

Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10.

American journal of medical genetics. Part A - 1 Oct 2021

Manaspon Chawan, Boonsimma Ponghatai, Phokaew Chureerat, Theerapanon Thanakorn, Sriwattanapong Kanokwan, Porntaveetus Thantrira, Shotelersuk Vorasuk

Abstract excerpt

PYCR2 pathogenic variants lead to an autosomal recessive hypomyelinating leukodystrophy 10 (HLD10), characterized by global developmental delay, microcephaly, facial dysmorphism, movement disorder, and hypomyelination. This study identified the first two unrelated Thai patients with HLD10. Patient 1 harbored the novel compound heterozygous variants, c.257T>G (p.Val86Gly) and c.400G>A (p.Val134Met), whereas...

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PMID: 34037307
DOI: 10.1002/ajmg.a.62365

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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