The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D

Figures

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  Figure 1. (a) Pedigree of the DA5D family with segregation analysis. The black symbols represent an affected member, and the arrow indicates the proband. Genotypes are identified by letters and slash, with red representing mutations. (b–f) The parts of phenotypes of the proband. (b) Facial features and contractures of the wrists, elbows, and knees in the proband. The proband had the bilateral distal arthrogryposis (c, d) and the webbing of bilateral fingers (e) and elbows (f).

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  Figure 2. (a) Sequencing results of the ECEL1 mutations. Sequence chromatograms indicate compound heterozygosity (NM_004826: c.69C>A, p.C23∗ and c.1810G>A, p.G604R) in the family with DA5D. (b) The mutation sites (G604R) are highly evolutionarily conserved across species. The red graph represents mutated amino acids, and the red box emphasizes these sites across species for comparison.

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  Figure 3. ECEL1 mutations identified in DA5D patients. The rectangular box represents the ECEL1 protein with the N-terminus on the left and C-terminus on the right. Known functional domains include a cytoplasmic domain (indicated by the red box), a transmembrane domain (yellow box), and an extracellular domain (gray box) with a zinc binding motif (green box). Vertical arrows show the approximate location of mutations of ECEL1. The red words represent previous mutations.