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Relationship Between MECP2 Genotype and Clinical Severity: A Comparative Analysis

Study shows the impact of MECP2 mutations on clinical features in RTT patients through severity scales of walking ability, psychomotor development, and onset of seizures. Various mutation types exhibit differing clinical manifestations. Comparison indicates significant differences in severity levels.

neil-solomon
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Relationship Between MECP2 Genotype and Clinical Severity: A Comparative Analysis

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  1. E-Figure 2: Relationship between RTT phenotype and MECP2 genotype. Clinical severity in three clinical features (A, ability to walk; B, psychomotor development during the first year; and C, onset of seizures) depends on specific MECP2 mutations. There is an overall difference in the severity of these clinical manifestations (A, p=0.01; B, p=0.03; C, p=0.03) between different MECP2 mutations. NS, Non-sense. MS, Missense. LT, Large truncating. ID, Interdomain. B. Psychomotor development during the first year A. Ability to walk Scale of severity Scale of severity 0 1 2 0 1 2 Large deletion (n=4) Large deletion (n=4) R255X (n=5) R255X (n=6) R270X (n=9) R270X (n=9) R294X (n=6) R294X (n=6) R168X (n=9) R168X (n=9) Other NS mutations (n=4) Other NS mutations (n=4) LT mutations (n=9) LT mutations (n=9) R306C (n=8) R306C (n=8) R133C (n=2) R133C (n=2) T158M (n=7) T158M (n=7) Other MS mutations (n=12) Other MS mutations (n=12) 0 10 20 30 40 50 60 70 80 90 100 0 10 20 30 40 50 60 70 80 90 100 Percent Percent C. Onset of seizures Scale of severity 0 1 2 Large deletion (n=5) R255X (n=6) R270X (n=9) R294X (n=6) R168X (n=6) Other NS mutations (n=4) LT mutations (n=11) R306C (n=8) R133C (n=2) T158M (n=7) Other MS mutations (n=4) 0 10 20 30 40 50 60 70 80 90 100 Percent

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