Fig. 1 | Journal of Human Genetics

Fig. 1

From: Identification of novel FBN1 variations implicated in congenital scoliosis

Fig. 1

The family with congenital scoliosis and an FBN1 nonsense variant, c.2649G>A (p.Trp883Ter). a Pedigree and segregation of the variant. b Electropherograms of Sanger sequencing showing the heterozygous c.2649G>A in the proband (III-1) and his mother (II-2). Ref., the reference sequence. Black arrows indicate the nucleotide substitution positions. c Anteroposterior and lateral X-ray film of the whole spine of the proband III-1 displaying congenital scoliosis with segmentation defects of thoracic 10-lumbar 1 spine with formation of vertebral bar on the left. d Lateral X-ray film of the whole spine of II-2 showing severe congenital kyphosis with segmentation defects.

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