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Genetics of cleft lip and cleft palate in China
Insights
Cleft lip with or without cleft palate (CL(P)) affects 1.33 per 1,000 births in Shanghai. Family history and consanguinity suggest multifactorial inheritance for CL(P), with a heritability of 77.6%.
Area of Science:
- Medical Genetics
- Pediatric Health
- Public Health
Background:
- Cleft lip with or without cleft palate (CL(P)) is a common congenital anomaly.
- Understanding the genetic and environmental factors contributing to CL(P) is crucial for prevention and management.
Purpose of the Study:
- To investigate the incidence and familial recurrence of CL(P) in a Chinese population.
- To explore the potential etiological factors, including multifactorial inheritance and consanguinity, in CL(P).
Main Methods:
- Retrospective analysis of 60 CL(P) cases among 45,072 newborns over 10 years.
- Examination of family histories for 163 CL(P) probands to determine recurrence risks in relatives.
- Calculation of heritability using Falconer's formula.
Main Results:
- The incidence of CL(P) was 1.33 per 1,000 births.
- Recurrence risks increased with closer familial relationships: 4.47% (first-degree), 0.97% (second-degree), and 0.35% (third-degree relatives).
- Consanguinity was observed in 1.8% of CL(P) cases, higher than the general population (0.77%).
Conclusions:
- CL(P) in this population appears to be influenced by multifactorial inheritance.
- The high heritability estimate (77.6%) underscores the significant genetic component of CL(P).
- Findings support the need for genetic counseling and further research into environmental factors for CL(P).
Abstract:
During the past 10 years, 60 cases of cleft lip with or without cleft palate [CL(P)] were recorded among 45,072 newborns at Shanghai International Peace Maternity and Infant Hospital, China. The incidence was 1.33 per 1,000 births. The family histories of 163 CL(P) patients were analyzed. The incidences of CL(P) in the first-, second-, and third-degree relatives of CL(P) patients were 11/246 (4.47%), 10/1,032 (0.97%), and 6/1,727 (0.35%), respectively. Of the 163 probands, three had a history of consanguinity of the parents (1.8%), in contrast to 0.77% in the general population. These data are suggestive of multifactorial inheritance. The heritability of CL(P) in our study calculated by Falconer's formula was 77.6%.