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. Author manuscript; available in PMC: 2015 Feb 18.
Published in final edited form as: Am J Med Genet A. 2014 Jul 14;0(9):2328–2334. doi: 10.1002/ajmg.a.36678

FIG. 2.

FIG. 2

Family pedigrees and segregation of the ANTXR1 mutations. The affected individuals are symbolized with black filled shapes and the locations of mutations are indicated with arrows. All parents are consanguineous. A: Family HOU2001 with one affected and one unaffected child. The affected patient BAB5033 has the homozygous (M/M) c.1220_1221insT variant while the parents and the unaffected sibling are heterozygous carriers (M/+). B: Family HOU2034 with three affected children. All the affected siblings BAB5141, BAB5142 and BAB5143 have the homozygous c.411A>G variant, while the parents are heterozygous carriers. C: Family HOU2085 consists of two related families with cousin marriages. Both affected male cousins BAB5348 and BAB5349 have the homozygous c.1150G>A variant and the unaffected brother of BAB5349 (BAB5350) is a heterozygous carrier. DNA samples from the parents were not available (NA) for segregation analyses.