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Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4  David M. Alvarado, Hyuliya Aferol,

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Presentation on theme: "Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4  David M. Alvarado, Hyuliya Aferol,"— Presentation transcript:

1 Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4  David M. Alvarado, Hyuliya Aferol, Kevin McCall, Jason B. Huang, Matthew Techy, Jillian Buchan, Janet Cady, Patrick R. Gonzales, Matthew B. Dobbs, Christina A. Gurnett  The American Journal of Human Genetics  Volume 87, Issue 1, Pages (July 2010) DOI: /j.ajhg Copyright © 2010 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Clinical Findings in Patients with Chromosome 17q23.1q23.2 Microduplications (A) Chromosome 17q21.1q23.2 region showing 2.2 Mb duplication at chromosome 17: – (hg18 build of the UCSC genome browser) with increased log2 ratio and copy-number state in two patients ( and ) involving 1119 and 1120 markers. Seventeen RefSeq genes are located within the interval, including TBX2 and TBX4. Paired segmental duplications flank the duplicated region (shown in orange). (B and C) Untreated bilateral clubfoot: patient in (B) and patient in (C). (D) Limb hypoplasia in proband with bilateral clubfoot ( ) and hypoplasia of the right leg in his affected father with unilateral right-sided clubfoot ( ). Both had been treated surgically after failing conservative therapy. (E) Broad, short, overlapping toes with nail hypoplasia in proband ( ). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Pedigrees of Four Isolated Clubfoot Families with Chromosome 17q23.1q23.2 CNVs Microduplications segregate with clubfoot with incomplete penetrance in three families (5377, 5103, and 5035), and microdeletions are present in two siblings with clubfoot (5046). Black affection status indicates clubfoot, and gray indicates developmental dysplasia of the hip. Dup indicates duplication, del indicates deletion, and WT indicates normal copy number. The twins in family 5035 are not identical. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Skeletal Abnormalities Associated with Chromosome 17q23.1q23.2 CNVs in Individuals with Isolated Familial Clubfoot All radiographic images are of patients with chromosome 17q23.1q23.2 microduplication except the image in (F), which is of an individual with a microdeletion. (A) Large distal fibular head (lateral malleolus) (arrowhead) and shortened calcaneus (arrow) in proband's father ( ) imaged at age 50. (B) Normal patella in proband ( ) at 7 years of age. (C) Short, broad first metacarpal (arrow) and triangular, tufted first phalanx (arrowhead) in foot of a proband ( ) at 3 years of age. (D) Bilateral hypoplastic lateral distal tibial epiphysis in proband ( ) at 7 years of age. (E) Pelvis of proband's father ( ) showing thickened ischium (white arrow), infra-acetabular axe-cut notches (black arrow), absent normal iliac flare with moth-eaten appearance (arrowhead), and tall, narrow ilium (black line). (F) Comparison image of pelvis of proband with microdeletion ( ) at 9 months of age showing hypoplastic ischium (white arrow), small infra-acetabular axe-cut notches (black arrow), and short, wide iliac bone (black line). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

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