Premium
Rett syndrome in females with CTS hot spot deletions: A disorder profile
Author(s) -
Smeets E.,
Terhal P.,
Casaer P.,
Peters A.,
Midro A.,
Schollen E.,
van Roozendaal K.,
Moog U.,
Matthijs G.,
Herbergs J.,
Smeets H.,
Curfs L.,
SchranderStumpel C.,
Fryns J.P.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30410
Subject(s) - rett syndrome , mecp2 , phenotype , dystonia , genetics , psychology , medicine , biology , neuroscience , gene
From a series of 107 females with Rett syndrome (RTT), we describe the long‐term history of ten females with a deletion in the C‐terminus of the MECP2 gene. We observed that their disorder profile is clinically recognizable with time and different from other atypical and milder RTT phenotypes. In females with hot spot deletions in the C‐terminus, dystonia is present from childhood and results in a serious spine deformation in spite of preventive measures. Their adaptive behavior is surprisingly better preserved and in contrast with the typical decline in motor functioning. The delineaton of disorder profiles by long‐term clinical observation can teach us about genotype/phenotype relationships and eventually about the effect of epigenetic phenomena on the final phenotype. © 2004 Wiley‐Liss, Inc.