Document Detail


Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.
MedLine Citation:
PMID:  23188045     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Deletions of the chromosomal region 2q37 cause brachydactyly-mental retardation syndrome (BDMR), also known as Albright hereditary osteodystrophy-like syndrome. Recently, histone deacetylase 4 (HDAC4) haploinsufficiency has been postulated to be the critical genetic mechanism responsible for the main clinical characteristics of the BDMR syndrome like developmental delay and behavioural abnormalities in combination with brachydactyly type E (BDE). We report here on the first three generation familial case of BDMR syndrome with inheritance of an interstitial microdeletion of chromosome 2q37.3. The deletion was detected by array comparative genomic hybridization and comprises the HDAC4 gene and two other genes. The patients of this pedigree show a variable severity of psychomotor and behavioural abnormalities in combination with a specific facial dysmorphism but without BDE. Given that only about half of the patients with 2q37 deletions have BDE; we compared our patients with other patients carrying 2q37.3 deletions or HDAC4 mutations known from the literature to discuss the diagnostic relevance of the facial dysmorphism pattern in 2q37.3 deletion cases involving the HDAC4 gene. We conclude that HDAC4 haploinsufficiency is responsible for psychomotor and behavioural abnormalities in combination with the BDMR syndrome-specific facial dysmorphism pattern and that these clinical features have a central diagnostic relevance.European Journal of Human Genetics advance online publication, 28 November 2012; doi:10.1038/ejhg.2012.240.
Authors:
Pablo Villavicencio-Lorini; Eva Klopocki; Marc Trimborn; Randi Koll; Stefan Mundlos; Denise Horn
Related Documents :
23683455 - Fatal recrudescence of malignant hyperthermia in an infant with moebius syndrome.
22011975 - Symptom-triggered benzodiazepine therapy for alcohol withdrawal syndrome in the emergen...
22009375 - Clinical and prognostic implications of the genetic diagnosis of hereditary net syndrom...
24396685 - Polyglandular autoimmune syndrome type iii with primary hypoparathyroidism.
3052085 - Prenatal ultrasonographic recognition of goldenhar's syndrome.
8158185 - The neck-tongue syndrome.
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-11-28
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  -     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-28     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Centre for Pediatrics and Adolescent Medicine, University Hospital of Freiburg, Freiburg, Germany.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
Next Document:  Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ov...