A SOX3 duplication and lumbosacral spina bifida in three generations

被引：5

作者：

Butler, Kameryn M. ^{[1
]}

Fee, Timothy ^{[1
]}

DuPont, Barbara R. ^{[1
]}

Dean, Jane H. ^{[1
]}

Stevenson, Roger E. ^{[1
]}

Lyons, Michael J. ^{[1
]}

机构：

[1] Greenwood Genet Ctr, Charleston, SC 29418 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2022年 / 188卷 / 05期

关键词：

gene duplication; neural tube defects; SOX3; spina bifida; X-linkage; LINKED MENTAL-RETARDATION; FAMILY; XQ27;

D O I：

10.1002/ajmg.a.62668

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1572 / 1577

页数：6

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