PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
Authors: Fatih Bayrakli; Kaya Bilguvar; Christopher E Mason; Michael L DiLuna; Yasar Bayri; Levent Gungor; Murat Terzi; Shrikant M Mane; Richard P Lifton; Matthew W State; Murat Gunel Journal: Hum Mutat Date: 2007-12 Impact factor: 4.878
Authors: E Rampersaud; A G Bassuk; D S Enterline; T M George; D G Siegel; E C Melvin; J Aben; J Allen; A Aylsworth; T Brei; J Bodurtha; C Buran; L E Floyd; P Hammock; B Iskandar; J Ito; J A Kessler; N Lasarsky; P Mack; J Mackey; D McLone; E Meeropol; L Mehltretter; L E Mitchell; W J Oakes; J S Nye; C Powell; K Sawin; R Stevenson; M Walker; S G West; G Worley; J R Gilbert; M C Speer Journal: J Med Genet Date: 2005-04-14 Impact factor: 6.318