PMC7793974_01
PMC7793974_02
(A,B) Craniofacial dysmorphism; (C) microcephaly; (D) polydactyly; (E) Hypotonia.
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F1
Bilateral tendon reflexes were weakened, Babbitt's sign was negative, and no sign of spastic paralysis (Figures 1A-E).
DNA electrophoregram with the c.1603C > T,p.R535X mutation in exon 10 of CTNNB 1. 9Y2415:patient; 9Y2415FUVO:father; 9Y2415MUVO:mother.
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F2
T, p.R535X (gene position: CHR3: 41275708-41275708) was on exon 10 of chromosome 3, resulting in the loss of CTNNB1 gene function. The parents do not have the same gene mutation, then the child is identified as a de novo mutation (Figures 2, 3).
Pedigree of the family.
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PMC7793974_02_fped-08-575673-g0003.jpg
F3
T, p.R535X (gene position: CHR3: 41275708-41275708) was on exon 10 of chromosome 3, resulting in the loss of CTNNB1 gene function. The parents do not have the same gene mutation, then the child is identified as a de novo mutation (Figures 2, 3).