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Family pedigree analysis of children with severe breath-holding spells
1Department of Pediatrics, Connecticut Children's Medical Center, Hartford 06106, USA.
Insights
Severe breath-holding spells (SBHS) appear to be inherited as an autosomal dominant trait. This genetic pattern suggests reduced penetrance, meaning not all individuals with the gene show symptoms.
Area of Science:
- Pediatrics
- Genetics
- Clinical Medicine
Background:
- Severe breath-holding spells (SBHS) are a common pediatric condition.
- The underlying inheritance pattern of SBHS requires further elucidation.
Purpose of the Study:
- To investigate the genetic inheritance pattern of severe breath-holding spells (SBHS).
Main Methods:
- Analysis of family pedigrees from 57 probands with SBHS.
- Inclusion of 1683 individuals across 85 nuclear families.
- Assessment of SBHS prevalence in parents and siblings of probands.
Main Results:
- SBHS was present in 27% of parents and 21% of siblings of probands.
- Father-to-son transmission occurred in 7 instances.
- Affected individuals were observed across multiple generations in several families, with a male/female ratio of 1:1.2.
Conclusions:
- The findings strongly suggest an autosomal dominant inheritance pattern for SBHS.
- Reduced penetrance is likely a key feature of this genetic trait.
- Further research into the genetic basis of SBHS is warranted.
Abstract:
We examined family pedigrees of children with severe breath-holding spells (SBHS). There were 57 probands (27 males, 30 females; 44 cyanotic, 13 pallid) whose families comprised 1683 individuals. We found that 31 (27%) of 114 proband parents and 9 (21%) of 43 proband siblings had current or prior SBHS. Father-to-son transmission was observed in 7 instances. There were 7 families with 2 or more affected siblings and 5 families with 3 or more affected members. From 85 nuclear families, 130 individuals had current or prior SBHS (59 males, 71 females; male/female ratio, 1:12). These data suggest that the most likely underlying genetic inheritance pattern in SBHS is an autosomal dominant trait with reduced penetrance.