Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome

Clinical Genetics
Sarika U PetersAlan K Percy

Abstract

Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have varying degrees of severity in their mobility, hand use, developmental skills, and susceptibility to infections. In the present study, we examine the relationship between duplication size, gene content, and overall phenotype in MDS using a clinical severity scale. Other genes typically duplicated within Xq28 (eg, GDI1, RAB39B, FLNA) are associated with distinct clinical features independent of MECP2. We additionally compare the phenotype of this cohort (n = 48) to other reported cohorts with MDS. Utilizing existing indices of clinical severity in Rett syndrome, we found that larger duplication size correlates with higher severity in total clinical severity scores (r = 0.36; P = 0.02), and in total motor behavioral assessment inventory scores (r = 0.31; P = 0.05). Greater severity was associated with having the RAB39B gene duplicated, although most of these participants also had large duplications. Results suggest that developmental delays in the first 6 months of life, hypotonia, vasomotor disturbances, constipation, drooling, and bruxism are common in MDS. This is the first study to show that duplication size is related to clinical severity. ...Continue Reading

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Citations

Feb 14, 2020·American Journal of Medical Genetics. Part a·Cedrik Tekendo-NgongangAmbroise Wonkam
Jul 24, 2020·Journal of Neurodevelopmental Disorders·Sarika U PetersDouglas A Granger
Aug 8, 2020·Journal of Cellular Physiology·Bor Luen Tang
Feb 12, 2020·Clinical Genetics·Ainhoa Pascual-AlonsoJudith Armstrong
Nov 11, 2020·American Journal of Medical Genetics. Part a·Sarika U PetersJeffrey L Neul
Oct 15, 2020·Physiology·Jan-Marino RamirezAlyssa Huff
Feb 1, 2021·Journal of the Neurological Sciences·Ryo TakeguchiMasayuki Itoh
Sep 29, 2020·BMJ Paediatrics Open·Cary FuTimothy Benke
Feb 28, 2021·Journal of Neurochemistry·Santosh R D'Mello
Sep 7, 2021·Journal of Child Neurology·Jocelyn LorenzoAndrea Lowden
Aug 3, 2021·Journal of Pediatric Orthopedics·Bidzina KanashviliJason J Howard

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