Document Detail

Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.
MedLine Citation:
PMID:  22210230     Owner:  NLM     Status:  Publisher    
We identified a 495 Kb interstitial deletion of chromosome Xp22.2, centered on the AP1S2 gene, by means of oligonucleotide array comparative genomic hybridisation (array-CGH) in a child with marked hypotonia in the first months of life, psychomotor retardation, severely delayed walking and speech development, and unspecific dysmorphic facial features. The deletion was inherited from the healthy mother. Point mutations of the AP1S2 gene have been identified in patients with X-linked mental retardation (XLMR). The clinical features of our patient are quite similar to those reported in male patients carrying point mutations, thus suggesting that point mutations and deletions of the AP1S2 gene lead to a recognisable XLMR phenotype in males.
Lucia Ballarati; Anna Cereda; Rossella Caselli; Silvia Maitz; Silvia Russo; Angelo Selicorni; Lidia Larizza; Daniela Giardino
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-12-17
Journal Detail:
Title:  European journal of medical genetics     Volume:  -     ISSN:  1878-0849     ISO Abbreviation:  -     Publication Date:  2011 Dec 
Date Detail:
Created Date:  2012-1-2     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011. Published by Elsevier Masson SAS.
Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy.
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