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PMX2B, a new candidate gene for Hirschsprung's disease
H K Benailly1, J M Lapierre, B Laudier
1Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
Clinical Genetics
|August 16, 2003
Summary
Hirschsprung
Area of Science:
- Genetics
- Developmental Biology
- Gastroenterology
Background:
- Hirschsprung's disease (HSCR) is a congenital disorder affecting the enteric nervous system.
- Multigenic factors involving RET, EDNRB, SOX10, and SIP1 genes are implicated in HSCR etiology.
- Mutations in known genes explain only 50-60% of HSCR cases, indicating other genetic factors are involved.
Observation:
- A patient with syndromic short-segment HSCR presented with a de novo translocation t(4;8)(p13;p22).
- Comparative genomic hybridization revealed a 5 Mb deletion in the 4p12p13 region.
- This deletion encompassed the paired mesoderm homeobox gene (PMX2B).
Findings:
- The 4p13 deletion in the patient included the PMX2B gene.
- PMX2B is crucial for autonomic neural crest derivative development during embryonic gut formation.
- This finding suggests PMX2B haploinsufficiency as a potential predisposing factor for HSCR.
Implications:
- Identifies a novel candidate gene, PMX2B, in the genetic basis of Hirschsprung's disease.
- Highlights the role of PMX2B haploinsufficiency in syndromic HSCR.
- Suggests PMX2B as a potential target for future research and diagnostics in HSCR.