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Parental FISH studies in Patients 1�C3 and 5 were normal. Thus, these alterations are apparently de novo. The 5q11.2 deletion in Patient 1 was also apparently de novo. Parental aCGH studies for Patient 4 demonstrated the 5q31 duplication to be apparently de novo, whereas the patient's mother carried both duplications within AUTS2. Neither 5q31 deletions nor 5q31 duplications of the sizes seen in our patients have been reported in control cohorts find more [Itsara et al., 2009; Shaikh et al., 2009]. No significant copy number changes were identified by array analysis in the four individuals studied from family KTCN-011. Keratoconus in family KTCN-011 showed suggestive linkage to 5q31.1q35.3. Supplementary Table II displays parametric two-point LOD scores for the dominant mode of inheritance and nonparametric LOD (NPL) scores. Familial haplotypes at 5q22.1q34 are presented in Supplementary Figure 1. The proximal boundary of the proposed disease haplotype is at D5S471, defined by recombination in KTCN-011-07, and lack of a more distal recombination does not allow specification of a distal border with confidence. In family OPHN1 KTCN-011, seven known sequence variants and one novel amino acid substitution c.1949C?>?T (Ala650Val) were detected in TGFBI (Supplementary Table III). This substitution did not segregate with the proposed disease haplotype. Eleven known sequence variants were identified in PITX1, including one synonymous substitution, one missense substitution, one intronic substitution, and eight variants in UTRs (Supplementary Table III). Sequencing of IL9 revealed no sequence changes. Screening of TGFBI in Patients 1�C5 revealed 14 known sequence variants, four synonymous substitutions, nine intronic variants, and one substitution in the 3' UTR. BVD-523 price Analysis of IL9 revealed a known missense substitution and a known intronic sequence variant in Patient 5 (Supplemental Table IV). Sequencing of PITX1 revealed two known variants in the 3' UTR in Patients 1�C5 (Supplemental Table IV). Patient 1 is a 10-year-old male with multiple congenital anomalies, including hydrocephalus, cleft palate, bilateral hip dysplasia, neuromuscular scoliosis, a ventricular septal defect (VSD) that resolved spontaneously, pre- and postnatal growth restriction, and DD. Hydrocephalus and VSD were diagnosed prenatally at 7 months. Birth weight was 2.07?kg (