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. 2022 Oct 1;12:16477. doi: 10.1038/s41598-022-20684-9

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© The Author(s) 2022

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Family 2 with AI Type IJ (OMIM #617297). (A) Intraoral photograph of the proband (V:1) at age 9 showed a mixed dentition with enamel hypoplasia on both primary and permanent teeth. Horizonal hypoplastic bands were evident on the labial surface of lower incisors. (B) The pedigree indicated a 5-generation consanguineous family with the proband being the only individual with enamel malformations. (C) Panorex of the proband demonstrated that her unerupted teeth had extremely thin enamel, while the dentin and pulp chambers appeared normal. (D) DNA sequencing chromatograms revealed a reported ACP4 mutation in Exon 7 (NG_052652.1:g.8337C>T; NM_033068.3:c.713C>T, NP_149059.1:p.Ser238Leu), which was homozygous in the proband and heterozygous in all of her immediate family members (IV:4, IV:5, V:2, and V:3).