Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31

作者：Bayri Yasar; Soylemez Burcak; Seker Askin; Yuksel Sirin; Tanrikulu Bahattin; Unver Olcay; Canbolat Cagri; Sakar Mustafa; Kardag Ozen; Yakicier Cengiz; Dagcinar Adnan; Ziyal Ibrahim; Bayrakli Fatih^*

来源：Child's Nervous System, 2015, 31(8): 1367-1370.

DOI：10.1007/s00381-015-2753-z

• Meningomyelocele
• Neural tube defects
• Whole genome linkage analysis
• Chromosome
• LOD score

Meningomyelocele is one of the most common and socioeconomically, psychologically, and physically debilitating neurodevelopmental diseases. A few chromosomal locus and genes have been identified as responsible for the disease; however, clear evidence still needs to be produced. This study aimed to show evidence of a strong genetic linkage in a novel chromosomal locus in a family with this neural tube defect.
We identified a neural tube defect family in eastern Turkey, where two of six offspring had operations due to thoracolumbar meningomyelocele. The parents were of a consanguineous marriage. We collected venous blood from six offspring of the family. Whole genome linkage analysis was performed in all offspring.
A theoretical maximum logarithm of an odds score of 3.16 was identified on chromosome 9q21.12-21.31. This result shows a strong genetic linkage to this locus.
Our results identified a novel chromosomal locus related to meningomyelocele and provide a base for further investigations toward the discovery of a new causative gene.

• 出版日期2015-8