Ann Lab Med.  2015 Jan;35(1):181-184. 10.3343/alm.2015.35.1.181.

Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome

• Shin SJ
• Kim M
• Chae H
• Kwon A
• Kim Y
• Kim SJ
• Yoon HE
• Jekarl DW
• Lee S

• KMID: 2363175
• DOI: http://doi.org/10.3343/alm.2015.35.1.181

Abstract

No abstract available.

MeSH Terms

Adult
Alleles
Asian Continental Ancestry Group/*genetics
Bardet-Biedl Syndrome/diagnosis/*genetics
Base Sequence
Blindness/pathology
DNA/chemistry/metabolism
Exons
*Heterozygote
Humans
Macular Degeneration/diagnosis
Male
*Mutation
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Proteins/*genetics
Republic of Korea
DNA
Proteins

Figure

• 

  Fig. 1 Fundus photograph of the proband with Bardet-Biedl syndrome. Fundus examination showed optic disc atrophy with indistinct margins. Marked arteriolar narrowing is observed, and bone spicule pigmentations are present in the mid-periphery of the retina. Macular dystrophy is also observed in both eyes.

• 

  Fig. 2 Characterization of the family with Bardet-Biedl syndrome. (A) Pedigree showing the segregation of c.103-1G>A and c.728G>A variants. The arrow indicates the proband of the family. (B) Sequencing analysis revealed a compound heterozygous mutation of c.103-1G>A (a consensus splice acceptor site) at the intron 2 and the exon 3 boundary, and c.728G>A (p.Cys243Tyr) at the exon 8 of the BBS7 gene.

Reference

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