title: Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal.
abstract: 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.
authors.affiliation: Lifespan Health Research Center, Department of Community Health, Boonshoft School of Medicine, Wright State University, 3171 Research Blvd., Dayton, OH 45420-4014, USA.
authors.forename: Kimberly D
authors.initials: KD
authors.lastname: Williams
authors.forename: John
authors.initials: J
authors.lastname: Blangero
authors.forename: Carol R
authors.initials: CR
authors.lastname: Cottom
authors.forename: Sharon
authors.initials: S
authors.lastname: Lawrence
authors.forename: Audrey C
authors.initials: AC
authors.lastname: Choh
authors.forename: Stefan A
authors.initials: SA
authors.lastname: Czerwinski
authors.forename: Miryoung
authors.initials: M
authors.lastname: Lee
authors.forename: Dana L
authors.initials: DL
authors.lastname: Duren
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Sherwood
authors.forename: Thomas D
authors.initials: TD
authors.lastname: Dyer
authors.forename: Bharat
authors.initials: B
authors.lastname: Jha
authors.forename: Janardan
authors.initials: J
authors.lastname: Subedi
authors.forename: Sarah
authors.initials: S
authors.lastname: Williams-Blangero
authors.forename: Bradford
authors.initials: B
authors.lastname: Towne
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D050278:Finger Phalanges / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005828:Genetics, Population / Q000379:methods*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008297:Male; D009390:Nepal / Q000453:epidemiology; D010641:Phenotype; D015995:Prevalence; D011859:Radiography