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Article

Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2.

American journal of medical genetics. Part A - 1 Apr 2020

Sato Taisuke, Kojima Takashi, Samura Osamu, Kawaguchi Satoshi, Nakamura Akie, Nakajima Masahiro, Tanuma-Takahashi Akiko, Nakabayashi Kazuhiko, Hata Kenichiro, Ikegawa Shiro, Nishimura Gen, Okamoto Aikou, Yamada Takahiro

Abstract excerpt

We present two unrelated Japanese pedigrees with achondrogenesis type 1b (ACG1B), characterized by prenatally lethal fetal hydrops and severe micromelia. The affected members in these pedigrees carried a common homozygous missense point mutation in solute carrier family 26 member 2 (SLC26A2), a gene associated with ACG1B (NM_000112:c.1987G>A). This loss-of-function point mutation causes substitution of glycine...

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PMID: 31880411
DOI: 10.1002/ajmg.a.61469

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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