Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype Jet Bliek, Paulien.

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Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype Jet Bliek, Paulien Terhal, Marie-José van den Bogaard, Saskia Maas, Ben Hamel, Georgette Salieb-Beugelaar, Marleen Simon, Tom Letteboer, Jasper van der Smagt, Hester Kroes, Marcel Mannens The American Journal of Human Genetics Volume 78, Issue 4, Pages 604-614 (April 2006) DOI: 10.1086/502981 Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 1 a, Schematic representation of the H19/IGF2 region of chromosome 11p15. Probe 1 is the deletion detection probe, probe 2, the promoter methylation detection probe. CTCF-binding sites within the DMR are indicated by blackened circles. b, Results of the H19 probe 2 hybridization. MI = methylation index. c, Results of the KCNQ1OT1 hybridization. d, Results of the H19 probe 1 hybridization. P1–P9 are the patients described in this study; C1 and C2 are normal controls; H1 and H2 are patients with hemihypertrophy and hypermethylation of H19. ND = not determined. The American Journal of Human Genetics 2006 78, 604-614DOI: (10.1086/502981) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 2 a, Patient 1, aged 2 years and 9 mo. Note triangular, asymmetric face, long eyelashes, thin lips, and mild retrognathia. A coloboma is present in the left eye. b, Asymmetry of the legs (left leg larger). c, Mild ulnar deviation of digits 3, 4, and 5, with shortening of the index finger and clinodactyly of the little finger. d, Patient 2, aged 9 mo. Broad forehead; small viscerocranium; triangular, asymmetric face; long eyelashes; thin lips with downturned corners of the mouth; and mild retrognathia. e, Asymmetry of the legs (left leg larger), internal rotation of the left arm, flexion deformity of the left wrist, and abnormal position of the feet (status after multiple surgical corrections). f, Patient 2, aged 4 years and 1 mo. Facial features are less characteristic of SRS. g, Patient 4, aged 5 mo. Note small viscerocranium, triangular face, large eyes with sunset phenomena, and thin lips with downturned corners of the mouth. h, Patient 9, aged 3 years and 3 mo. Note mild asymmetry of the face (right side larger), broad forehead, flat philtrum, and thin upper lip. i, Asymmetry (right side larger) of the body. j, Asymmetry of the hands (right hand larger), mild clinodactyly of little finger. The American Journal of Human Genetics 2006 78, 604-614DOI: (10.1086/502981) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 3 a, Chromosomal order (given in megabases, from the telomere of the short arm) of chromosome 7 markers used for UPD screening. b, Chromosomal order (given in megabases, from the telomere of the short arm) of chromosome 11 markers used for UPD screening. The American Journal of Human Genetics 2006 78, 604-614DOI: (10.1086/502981) Copyright © 2006 The American Society of Human Genetics Terms and Conditions