Ann Lab Med.  2015 May;35(3):387-389. 10.3343/alm.2015.35.3.387.

Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1

• Jang MA
• Kim OH
• Kim SW
• Ki CS

• KMID: 2363219
• DOI: http://doi.org/10.3343/alm.2015.35.3.387

Abstract

No abstract available.

MeSH Terms

Adult
Asian Continental Ancestry Group
Base Sequence
Brachydactyly/diagnosis/*genetics
DNA/chemistry/genetics/metabolism
DNA Mutational Analysis
Fingers/abnormalities
Hedgehog Proteins/*genetics
Humans
Male
Pedigree
Polymorphism, Single Nucleotide
Republic of Korea
Toes/abnormalities
DNA
Hedgehog Proteins

Figure

• 

  Fig. 1 (A) Pedigree of a family with brachydactyly type A1 (BDA1). (B) Hand and feet radiographs of the proband. Note the missing 2nd-5th middle phalanges of both hands and feet. The proximal phalanges of the thumbs and the great toes are hypoplastic.Abbreviations: P, proband; Rt, right; Lt, left.

• 

  Fig. 2 Sequence analysis of the IHH gene. A heterozygous mutation of c.391G>A (p.Glu131Lys) in exon 2 is noted.

Reference

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