Frances R. Goodman, Frank Majewski, Amanda L. Collins, Peter J

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A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly Frances R. Goodman, Frank Majewski, Amanda L. Collins, Peter J. Scambler The American Journal of Human Genetics Volume 70, Issue 2, Pages 547-555 (February 2002) DOI: 10.1086/338921 Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 1 Haplotype analysis in the two families. A, Relative positions of the 12 polymorphic markers used, with their approximate distances from the tip of the short arm of chromosome 2. D2S294, D2S333, D2S335, D2S326, D2S364, D2S1391, D2S389, and D2S117 are microsatellite repeats spanning a 20.7-cM interval in the vicinity of the HOXD cluster on chromosome 2q31 (Sheffield et al. 1995; Dib et al. 1996). HOXD10, originally reported as HOX4E (Rosen and Brown 1993), lies in the 3′ UTR of HOXD10. HOXD11 (a TG repeat in the intron of HOXD11), EVX2 (an AG repeat just telomeric to the 5′ UTR of EVX2), and 5′ HOXD (a CA repeat ∼60 kb centromeric to the HOXD cluster) are three new polymorphic markers identified in the present study (details available on request). B and C, Pedigree drawings of families 1 and 2, respectively (blackened symbols represent affected individuals; arrows indicate the probands), and results of haplotype analysis. The bracketed haplotype for individual I.2 from family 1, from whom DNA was not available, was inferred from the results for individuals I.1 and II.1. The American Journal of Human Genetics 2002 70, 547-555DOI: (10.1086/338921) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 2 Limb abnormalities in the two families. A, Radiograph of both hands of individual III.1 from family 1 at age 2 years, showing complete cutaneous syndactyly between the third and fourth fingers, duplication of all three phalanges of the third fingers, broad third metacarpals, and hypoplastic fifth middle phalanges. B, Radiograph of right foot of individual III.1 from family 1 at age 11 years, showing broad hallux, partial cutaneous syndactyly between the second to fifth toes, fifth-toe brachydactyly, hypoplastic second to fifth middle phalanges, short second to fifth metatarsals, and partial duplication of the base of the second metatarsal in the first web space. C, Radiograph of right foot of individual II.1 from family 1 at age 35 years, showing broad hallux, partial cutaneous syndactyly between the second to fourth toes, fifth-toe brachydactyly, hypoplastic second to fifth middle phalanges, occasional symphalangism between the middle and distal phalanges, and partial duplication of the base of the second metatarsal in the first web space. D, Photograph of right hand of individual II.1 from family 2 at age 10 mo, showing clenched and overlapping fingers. E, Photograph of right foot of individual II.1 from family 2 at age 10 mo, showing severe “lobster-claw” deformity with absence of the middle three rays. The American Journal of Human Genetics 2002 70, 547-555DOI: (10.1086/338921) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 3 Precise extent of the deletion in family 1. The electropherogram shows the sequence across the deletion breakpoint. The telomeric end of the deletion is located 658 bp downstream of HOXD9. The centromeric end of the deletion is located within a LINE-1 element, ∼5 kb telomeric to the most 5′ known exon of KIAA1715. Inside the deleted segment, the seven highly conserved regions likely to represent regulatory elements are denoted by blue boxes (R1–R7). The American Journal of Human Genetics 2002 70, 547-555DOI: (10.1086/338921) Copyright © 2002 The American Society of Human Genetics Terms and Conditions