Goldberg-Shprintzen megacolon Syndrome
OMIM:609460Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | EDNRB |
|---|---|
| Reference transcript | NM_000115.3 |
| DNA Change | c.914G>A |
| A.A. Change | p.Ser305Asn |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Brooks AS, Breuning MH, Osinga J, vd Smagt JJ, Catsman CE, Buys CH, Meijers C, Hofstra RM.A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). J Med Genet. 1999 Jun;36(6):485-9. |
| Gene Symbol | KIAA1279 |
|---|---|
| Reference transcript | NM_015634.3 |
| DNA Change | c.268C>T |
| A.A. Change | p.Arg90Stop |
| Exon/Intron | exon 1 |
| Mutation Type | substitution |
| Reference | Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM.Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. Am J Hum Genet. 2005 Jul;77(1):120-6. |