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A Feingold syndrome case with previously undescribed features and a new mutation
1Department of Medical Genetics, SB Ankara Diskapi Children's Hospital, Ankara, Turkey.
Genetic Counseling (Geneva, Switzerland)
|October 27, 2009
Summary
Feingold syndrome (FS) is a rare genetic disorder. This study identifies a novel MYCN gene mutation in the first Turkish family diagnosed with FS, impacting genetic counseling.
Area of Science:
- Genetics
- Medical Genetics
- Rare Diseases
Background:
- Feingold syndrome (FS) is an autosomal dominant disorder characterized by microcephaly, learning disabilities, digital anomalies, and gastrointestinal atresia.
- The genetic basis of FS has been localized to chromosome 2p23-p24, but specific causative genes are still being identified.
Observation:
- This report details the first documented case of Feingold syndrome in a Turkish family.
- The affected infant presented with microcephaly, facial anomalies, choanal atresia, epilepsy, and specific digital abnormalities.
- Family history revealed affected father and a sibling who died from esophageal atresia, consistent with FS inheritance patterns.
Findings:
- Genetic analysis confirmed Feingold syndrome in the Turkish family.
- A novel missense mutation in the MYCN gene was identified as the cause of FS in this family.
- This mutation has not been previously reported in the literature.
Implications:
- The identification of a new mutation expands the known spectrum of genetic causes for Feingold syndrome.
- Accurate genetic diagnosis is crucial for understanding FS inheritance and providing genetic counseling to affected families.
- This discovery aids in the ongoing research to fully elucidate the genetic architecture of Feingold syndrome.
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