Heritability of Brachydactyly Type A3 in Children, Adolescents, and Young Adults from an Endogamous Population in Eastern Nepal

• Published in: Human biology Vol. 79; no. 6; pp. 609 - 622
• Main Authors: Williams, Kimberly D., Blangero, John, Cottom, Carol R., Lawrence, Sharon, Choh, Audrey C., Czerwinski, Stefan A., Lee, Miryoung, Duren, Dana L., Sherwood, Richard J., Dyer, Thomas D., Jha, Bharat, Subedi, Janardan, Williams-Blangero, Sarah, Towne, Bradford
• Format: Journal Article
• Language: English
• Published: United States Wayne State University Press 01.12.2007
• Subjects: Abnormalities; Adolescent; Adult; Bones; BRACHYDACTYLY; BRACHYDACTYLY TYPE A3 (BDA3); Child; Child growth; Child, Preschool; Children; Evaluation; Female; Finger Phalanges - abnormalities; Finger Phalanges - diagnostic imaging; Genetic aspects; Genetics; Genetics, Population - methods; Hand Deformities, Congenital - diagnostic imaging; Hand Deformities, Congenital - epidemiology; Hand Deformities, Congenital - genetics; Heredity; Heritability; Human biology; Human genetics; Human subjects; Humans; JIRELS; Male; Males; Medical genetics; Medical research; Minority & ethnic groups; Musculoskeletal abnormalities; NEPAL; Nepal - epidemiology; PHALANGES; Phalanges (Bones); Phenotype; Phenotypic traits; Population genetics; Prevalence; Quantitative genetics; Radiography; s; SKELETAL ANOMALIES OF THE HAND; Studies; Nepal
• ISSN: 0018-7143; 1534-6617; 1534-6617
• DOI: 10.1353/hub.2008.0016

Brachymesophalangia-V (BMP-V), a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3). A high prevalence of BDA3 has been observed among the children of the Jirel ethnic group in eastern Nepal. As part of the Jiri Growth Study, a hand-wrist radiograph is taken annually of each child to assess skeletal development. For this study the most recent radiographs of 1,357 Jirel children, adolescents, and young adults (676 boys, 681 girls), age 3–20 years, were examined for the presence or absence of BDA3, to report the prevalence and estimate the heritability of BDA3 in the Jirel population. The overall prevalence of BDA3 in this sample was 10.5% (12.9% of the males and 8.9% of the females were classified as BDA3 affected). The additive genetic heritability of BDA3 was statistically significant in this sample (h2 ± SE = 0.87 ± 0.16, p < 0.0001). This study is the first to estimate the prevalence and heritability of BDA3 in a large South Asian family-based sample.