Mutational analysis of the BMP-1 gene in patients with gastroschisis.
BACKGROUND
Gastroschisis is a rare abdominal wall defect. Although the pathogenesis of gastroschisis is unknown, there is some evidence of the genetic etiology of gastroschisis. Recently, a functionally null deletion of the mouse bone morphogenic protein-1 (BMP-1) gene resulted in a phenotype that resembled a human neonate with gastroschisis. BMP-1 thus became the first potential candidate gene for gastroschisis.


METHODS
To explore this possibility the authors collected blood samples from 11 patients who had gastroschisis. Mutational analysis of exons 2 to 15 of the human BMP-1 gene was performed using genomic polymerase chain reaction, single-strand conformation polymorphism analysis and direct sequencing methods.


RESULTS
No mutation of the human BMP-1 gene was observed in any of these patients.


CONCLUSIONS
Although heterogeneous etiologies might be proposed for gastroschisis, our results provide further evidence of a nongenetic etiology for gastroschisis. J Pediatr Surg 36:885-887.
Komuro
H
H
Department of Surgery, Jichi Medical School, Tochigi, Japan.
Mori
M
M
Hayashi
Y
Y
Fukagawa
M
M
Makino
S
S
Takahara
K
K
Greenspan
D S
DS
Momoi
M Y
MY
D055395:Bone Morphogenetic Protein 1; D019485:Bone Morphogenetic Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D020139:Gastroschisis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008666:Metalloendopeptidases / Q000235:genetics*; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
D019485:Bone Morphogenetic Proteins; D008666:Metalloendopeptidases; C525705:BMP1 protein, human; C525707:Bmp1 protein, mouse; D055395:Bone Morphogenetic Protein 1