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:  MEDLINE    
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.
Pablo Villavicencio-Lorini; Eva Klopocki; Marc Trimborn; Randi Koll; Stefan Mundlos; Denise Horn
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Publication Detail:
Type:  Journal Article     Date:  2012-11-28
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  21     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Jul 
Date Detail:
Created Date:  2013-06-13     Completed Date:  2013-11-04     Revised Date:  2014-07-01    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  743-8     Citation Subset:  IM    
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MeSH Terms
Brachydactyly / diagnosis,  genetics*,  physiopathology
Child, Preschool
Chromosome Deletion
Chromosome Disorders / diagnosis,  genetics*,  physiopathology
Chromosomes, Human, Pair 2 / genetics*
Comparative Genomic Hybridization
Fibrous Dysplasia, Polyostotic / diagnosis,  genetics*,  physiopathology
Histone Deacetylases / genetics*
Intellectual Disability / diagnosis,  genetics*,  physiopathology
Middle Aged
Repressor Proteins / genetics*
Sequence Deletion
Reg. No./Substance:
0/Repressor Proteins; EC protein, human; EC Deacetylases

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

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