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Feingold syndrome

  • MYCN
  • V-MYC (avian myelocytomatosis viral-related oncogene, neuroblastoma-derived)
  • NMYC oncogene
Feingold syndrome is a rare syndrome with multiple congenital anomalies, most notably microcephaly, digital abnormalities, and esophageal/duodenal atresia. The features observed in Feingold syndrome share appreciable overlap with the VATER and VACTERL associations, especially in patients with esophageal/duodenal atresia. Genetic testing for Feingold syndrome may be useful in the differential diagnosis of these syndromes.

Feingold syndrome is an autosomal dominant disorder caused by heterozygous mutations in the MYCN gene. Sporadic cases due to de novo mutations occur in ~50% of patients.

MYCN mutations have been identified in 15 of 23 (65%) unrelated families, the majority being truncating mutations (nonsense and frameshift) that result in haploinsufficiency. Additionally, two whole gene deletions and three missense mutations have been observed.

Using genomic DNA obtained from buccal (cheek) swabs or blood (1-5 mL in EDTA), analysis is performed by bi-directional sequencing of the coding regions (exons 2-3) and splice sites of the MYCN gene. This approach is expected to identify >99% of existing small, intrageneic mutations. In cases where (1) no small intrageneic mutation is identified and (2) no heterozygous positions were observed, CopyDxSM gene copy number analysis is available for detection of a partial/whole deletion of one MYCN allele. Mutation-specific testing in family members and prenatal diagnosis in at-risk pregnancies is available once a mutation in an affected person has been defined.

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Feingold syndrome, MYCN, V-MYC, NMYC, multiple congenital anomalies, microcephaly, learning disability, mild mental retardation, digital abnormalities, short middle phalanges, clinodactyly, hypoplastic thumbs, restricted finger and elbow movement, toe syndactyly, esophageal, duodenal, atresia, dysmorphic facies, VATER, VACTERL, autosomal dominant

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