A SOX3 duplication and lumbosacral spina bifida in three generations.

Authors :: Butler KM
Fee T
DuPont BR
Dean JH
Stevenson RE
Lyons MJ
Source :: American journal of medical genetics. Part A [Am J Med Genet A] 2022 May; Vol. 188 (5), pp. 1572-1577. Date of Electronic Publication: 2022 Jan 31.
Publication Year :: 2022
Abstract: Chromosomal aneuploidies, microduplications and microdeletions are the most common confirmed genetic causes of spina bifida. Microduplications of Xq27 containing the SOX3 gene have been reported in 11 cases, confirming the existence of an X-chromosomal locus for spina bifida. A three generation kindred reported here with a SOX3 duplication has been identified in one of 17 kindreds with recurrences in the 29 years of the South Carolina Neural Tube Defect Prevention Program. Other recurrences during this time period included siblings with an APAF1 mutation, siblings with a CASP9 mutation, siblings with a microdeletion of 13q, and two sets of siblings with Meckel syndrome who did not have genetic/genomic studies performed.<br /> (© 2022 Wiley Periodicals LLC.)