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Case Reports
. 2023 Feb;191(2):400-407.
doi: 10.1002/ajmg.a.63034. Epub 2022 Nov 7.

Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features

Takeaki Tamura  1   2   3 , Keiko Yamamoto Shimojima  3   4 , Takashi Shiihara  5 , Satoru Sakazume  6 , Nobuhiko Okamoto  7 , Hiroshi Yagasaki  1 , Ichiro Morioka  1 , Hitoshi Kanno  3   4 , Toshiyuki Yamamoto  2   4
Affiliations
Case Reports

Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features

Takeaki Tamura et al. Am J Med Genet A. 2023 Feb.

Abstract

Interstitial microdeletions in the long arm of chromosome 3 are rare. In this study, we identified two patients with approximately 5-Mb overlapping deletions in the 3q26.2q26.31 region. Both patients showed neurodevelopmental delays, congenital heart defects, and distinctive facial features. One of them showed growth deficiency and brain abnormalities, as shown on a magnetic resonance imaging scan. Haploinsufficiency of NLGN1 and FNDC3B present in the common deletion region was considered to be responsible for neurodevelopmental delay and the distinctive features, respectively. The possibility of unmasked variants in PLD1 was considered and analyzed, but no possible pathogenic variant was found, and the mechanism of the congenital heart defects observed in the patients is unknown. Because 3q26.2q26.31 deletions are rare, more information is required to establish genotype-phenotype correlations associated with microdeletions in this region.

Keywords: 3q26.2q26.31 deletion; FNDC3B; NLGN1; PLD1; congenital heart defects; neurodevelopmental delays.

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References

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