Clinical and molecular studies of brachydactyly type D

Robin, Nathaniel H.; Hurvitz, Jennifer; Warman, Matthew L.; Morrison, Stuart C.

doi:10.1002/(sici)1096-8628(19990806)85:4<413::aid-ajmg20>3.0.co;2-c

Cited by 3 publications

(3 citation statements)

References 15 publications

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“…Indeed, previous studies of BDE include mention of affected distal phalanges of the first digit (Bell, ; Goodman et al ; Hefner, ; Stecher, ). Similarly, studies of BDD have documented involvement of the metacarpals (e.g., Goodman et al ; Hefner, ; Robin et al ; Stecher, ).…”

Section: Phenotypic and Genetic Overlap Between Bdd And Bdementioning

confidence: 89%

Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the jirel ethnic group in eastern nepal

Williams

Blangero

Subedi

et al. 2013

American J Hum Biol

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Objectives There is phenotypic overlap between Brachydactyly Type D (BDD) and Brachydactyly Type E (BDE) that suggests a possible common underlying etiology. We seek to understand the genetic underpinnings of, and relationship between, these skeletal anomalies. Methods The Jirel ethnic group of eastern Nepal participates in various genetic epidemiologic studies, including those in which hand-wrist radiographs have been taken to examine skeletal development. 2,130 individuals (969 males; 1,161 females) were phenotyped for BDD/BDE. Of these, 1,722 individuals (773 males; 949 females) were genotyped for 371 STR markers spanning the autosomal genome. Variance components-based linkage analysis was used to conduct a genome-wide linkage scan for QTL influencing the BDD/BDE phenotype. Results BDD was present in 3.55%, and BDE was present in 0.39%, of the study sample. Because of the phenotypic overlap between two traits, affecteds of either type were considered as affected by a single combined phenotype (BDD/BDE) having a prevalence of 3.94%. The additive genetic heritability of BDD/BDE was highly significant (h2 ± SE = 0.89 ± 0.13; p = 1.7×10−11). Significant linkage of BDD/BDE was found to markers on chromosome 7p21-7p14 (peak LOD score = 3.74 at 7p15 between markers D7S493 and D7S516). Conclusions Possible positional candidate genes in the one-lod support interval of this QTL include TWIST and the HOXA1-A13 cluster. This is the first study to report significant linkage results for BDD/BDE using a large extended pedigree, and the first to suggest that mutations in TWIST and/or the HOXA1-A13 cluster may contribute to these specific skeletal anomalies.

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Section: Phenotypic and Genetic Overlap Between Bdd And Bdementioning

confidence: 89%

Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the jirel ethnic group in eastern nepal

Williams

Blangero

Subedi

et al. 2013

American J Hum Biol

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“…Penetrance is complete in females and incomplete in males (Gray and Hurt 1984). No significant linkage with six loci known to contain genes involved in apical skeletal patterning has been demonstrated (Robin et al 1999). A wide, sometimes bifid, short distal phalanx of the thumb is seen in brachydactyly B (OMIM 113000), a condition with shortening of all the distal phalanges.…”

Section: ᭤ [Small/absent Thumb]mentioning

confidence: 99%

Hands

Castriota-Scanderbeg¹,

Dallapiccola

2005

Abnormal Skeletal Phenotypes

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“…BDD is a relatively common deformity, with a reported prevalence ranging from 0.41% to 4% in different populations (Goodman et al., 1965; Temtamy and Aglan, 2008). The inheritance pattern of BDD is autosomal dominant with incomplete penetrance (Gray and Hurt, 1984; Robin et al., 1999). It can occur either bilaterally or unilaterally in male and female individuals, with approximately 75% bilaterally affected (Gray and Hurt, 1984).…”

Section: Introductionmentioning

confidence: 99%

Aesthetic correction of short nail deformity in congenital brachydactyly Type D by distraction lengthening

Jiang

Hou

Huang

et al. 2022

J Hand Surg Eur Vol

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Brachydactyly Type D is a congenital condition of the thumb in which there is a short and broad thumbnail. Although the thumb function is often unaffected, some patients seek surgery for cosmetic improvement. This study aimed to describe our method of distraction lengthening to correct nail deformity in brachydactyly Type D. A total of 163 thumbs in 95 patients underwent this surgery between 2018 and 2021.The mean thumbnail length improved from 9 mm to 15 mm, with a mean percentage increase of 62%. The ratio of nail length to width changed from 0.6 to 1.1, which was equal to normal. The mean increased fingernail length/width ratio was 0.5, with a percentage change of 78%. No obvious surgical scar was observed. The thumb function was not significantly affected. We conclude that aesthetic correction of short nail deformity in brachydactyly Type D can be achieved by distraction lengthening with high satisfaction and without functional impairment. Level of evidence: IV

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Clinical and molecular studies of brachydactyly type D

Cited by 3 publications

References 15 publications

Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the jirel ethnic group in eastern nepal

Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the jirel ethnic group in eastern nepal

Hands

Aesthetic correction of short nail deformity in congenital brachydactyly Type D by distraction lengthening

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