What is it about?

Partial trisomy 2p syndrome is occasionally associated with neural tube defects (NTDs). We report the cases of 2 siblings (only the elder sister had spina bifida) with trisomy 2p24.3-pter and monosomy 5p14.3-pter caused by the paternal translocation t(2;5)(p24.3;p14.3). MSGN1, located in the trisomy segment (2p24.3), is one of the candidate gene of NTDs. This is the first study on spina bifida to determine the nucleotide sequences of breakpoints for trisomy 2p24.3-pter and monosomy 5p14.3-pter.

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Why is it important?

One sibling (without spina bifida) of the present study is the only living patient with the reported trisomy 2p and monosomy 5p. We considered that the reason why elder sister had NTDs, and younger brother did not have NTDs can be associated with the severity of the clinical conditions during embryonic period and other environmental factors, and/or genetic backgrounds may also be affecting the development of spina bifida. We found that MSGN1 on 2p24.3 is candidate gene of NTDs. Although Msgn1-knockout mice have been reported to exhibit incomplete neural tube closure, overexpressing Msgn1 mice have not yet been reported. Thus, overexpressing Msgn1 mice are necessary to understand molecular or genetic mechanisms underlying NTDs caused by trisomy 2p24.

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Daisuke Fukushi

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This page is a summary of: Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter, American Journal of Medical Genetics Part A, June 2017, Wiley, DOI: 10.1002/ajmg.a.38313.
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