Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1826-1829

  Wheeler, Patricia G ^a   Huang, Dongli ^b   Dai, Zunyan ^b  

^a NEMOURS CHILDREN S HOSPITAL   (United States)

^b QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

Author keywords

2q37.3; BDMR; Brachydactyly; HDAC4

Indexed keywords

HISTONE DEACETYLASE 4; MICRORNA; UNTRANSLATED RNA; HDAC4 PROTEIN, HUMAN; HISTONE DEACETYLASE; REPRESSOR PROTEIN;

ADULT; ARTICLE; BRACHYDACTYLY; BRACHYDACTYLY MENTAL RETARDATION SYNDROME; CASE REPORT; CHILD; CHROMOSOME 2Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; DEVELOPMENTAL DELAY; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAM; FAMILY HISTORY; FEBRILE CONVULSION; FOLLOW UP; GENETIC ASSOCIATION; HAPLOINSUFFICIENCY; HDAC4 GENE; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPING; MICROARRAY ANALYSIS; MOTOR RETARDATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PARIETAL LOBE; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; CHROMOSOME 2; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FOOT MALFORMATION; GENETICS; HAND MALFORMATION; INFANT; INTELLECTUAL DISABILITY; MALE; PHENOTYPE;

ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENETIC ASSOCIATION STUDIES; HAND DEFORMITIES, CONGENITAL; HAPLOINSUFFICIENCY; HISTONE DEACETYLASES; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; PHENOTYPE; REPRESSOR PROTEINS;

EID: 84902547288     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36542     Document Type: Article

References (8)

1. Kim MS, Akhtar MW, Adachi M, Mahgoub M, Bassel-Duby R, Kavalali EG, Olson ER. Monteggia LM. 2012. An essential role for histone deacetylase 4 in synaptic plasticity and memory formation. J Neurosci 32:10879-10886.
2. Leroy, C, Landais E, Briault S, David A, Tassy O, Gruchy N, Delobel B, Gregoire MJ, Leheup B, Taine L, Lacombe D, Delrue MA, Toutain A, Paubel A, Mugneret F, Thauvin-Robinet C, Arpin S, Le Caignec C, Jonveaux P, Beri M, Leporrier N, Motte J, Fiquet C, Brichet O, Mozelle-Nivoix M, Sabouraud P, Golovkine N, Bednarek N, Gaillard D, Doco-Fenzy M. 2013. The 2q37-deletion syndrome: An update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. Eur J Hum Genet 21:602-612.
3. Morris, B, Etoubleau C, Bourthoumieu S, Reynaud-Perrine S, Laroche C, Lebar A, Yardin C, Elsea SH. 2012. Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome. Am J Med Genet Part A 158A:2015-2020.
4. Phelan MC, Rogers RC, Byrd LK. 1993. Albright hereditary osteodystrophy and del(2)(q37) in two unrelated individuals. Am J Hum Genet 53:484.
5. Phelan, MC, Rogers RC, Clarkson KB, Bowyer FP, Levine MA, Estabrooks LL, Severson MC, Dobyns WB. 1995. Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals. Am J Med Genet 58:1-7.
6. Sando R, Gounko N, Pieraut S, Liao L, Yates J, Maximov A. 2012. HDAC4 governs a transcriptional program essential for synaptic plasticity and memory. Cell 151:81-834.
7. Villavicencio-Lorini P, Klopocki E, Trimborn M, Koll R, Mundlos S, Horn D. 2013. Phenotypic variant of brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. Eur J Hum Genet 21:743-748.
8. Williams SR, Aldred MA, Der Kaloustian VM, Hala F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis E, Elsea SH. 2010. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum Genet 87:219-228.