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A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy
Author(s) -
Soffer Omri David,
Sidlow Richard
Publication year - 2016
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.37665
Subject(s) - mecp2 , rett syndrome , exon , mutation , spasticity , encephalopathy , intellectual disability , neonatal encephalopathy , pediatrics , medicine , genetics , biology , gene , phenotype , physical therapy
Specific mutations in MECP2 cause Rett syndrome (RTT) in females whereas other mutations in the same gene cause several other syndromes in males, including X‐linked intellectual disability (with and without spasticity) (OMIM 300055) and X‐linked intellectual disability due to increased dosage of MECP2 (OMIM 300260). Males can also manifest an entity known as MECP2‐related severe neonatal encephalopathy whose mutations are identical to those in females with RTT. We describe here the first case of MECP2‐related severe neonatal encephalopathy caused by a mutation in exon one of MECP2, a mutation rarely identified in females with RTT. © 2016 Wiley Periodicals, Inc.