Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4 (original) (raw)
Doherty ES, Solomon BD, Lacbawan F : 2q37 Deletion Syndrome; in Pagon RA, Bird TD, Dolan CR, Stephens K, (eds): GeneReviews. Seattle WA, 1993–2011. Google Scholar
Falk RE, Casas KA : Chromosome 2q37 deletion: clinical and molecular aspects. Am J Med Genet C Semin Med Genet 2007; 145C: 357–371. Article Google Scholar
Aldred MA, Sanford RO, Thomas NS et al: Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. J Med Genet 2004; 41: 433–439. ArticleCAS Google Scholar
Chaabouni M, Le Merrer M, Raoul O et al: Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region. Eur J Med Genet 2006; 49: 255–263. ArticleCAS Google Scholar
Williams SR, Aldred MA, Der Kaloustian VM et al: Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum Genet 2010; 87: 219–228. ArticleCAS Google Scholar
Majdzadeh N, Wang L, Morrison BE, Bassel-Duby R, Olson EN, D'Mello SR : HDAC4 inhibits cell-cycle progression and protects neurons from cell death. Dev Neurobiol 2008; 68: 1076–1092. ArticleCAS Google Scholar
Miska EA, Langley E, Wolf D, Karlsson C, Pines J, Kouzarides T : Differential localization of HDAC4 orchestrates muscle differentiation. Nucleic Acids Res 2001; 29: 3439–3447. ArticleCAS Google Scholar
Vega RB, Matsuda K, Oh J et al: Histone deacetylase 4 controls chondrocyte hypertrophy during skeletogenesis. Cell 2004; 119: 555–566. ArticleCAS Google Scholar
van Karnebeek CDM, Koevoets C, Sluijter S et al: Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience. J Med Genet 2002; 39: 546–553. ArticleCAS Google Scholar
Rajan I, Savelieva KV, Ye GL et al: Loss of the putative catalytic domain of HDAC4 leads to reduced thermal nociception and seizures while allowing normal bone development. PLoS One 2009; 4: e6612. Article Google Scholar
Bialek P, Kern B, Yang X et al: A twist code determines the onset of osteoblast differentiation. Dev Cell 2004; 6: 423–435. ArticleCAS Google Scholar
Nakamura T, Toita H, Yoshimoto A et al: Potential involvement of Twist2 and Erk in the regulation of osteoblastogenesis by HB-EGF-EGFR signaling. Cell Struct Funct 2010; 35: 53–61. ArticleCAS Google Scholar
Tukel T, Sosic D, Al-Gazali LI et al: Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. Am J Hum Genet 2010; 87: 289–296. ArticleCAS Google Scholar
Cervantes-Barragan DE, Villarroel CE, Medrano-Hernandez A et al: Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification. J Med Genet 2010; 48: 716–720. Article Google Scholar
Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH et al: Array comparative genomic hybridisation of 52 subjects with a Smith–Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay. J Med Genet 2009; 47: 223–229. Article Google Scholar
Casas KA, Mononen TK, Mikail CN et al: Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. Am J Med Genet A 2004; 130A: 331–339. Article Google Scholar
Wilson LC, Leverton K, Oude Luttikhuis MEM et al: Brachydactyly and mental retardation: an albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet 1995; 56: 400–407. CASPubMedPubMed Central Google Scholar
Kilgore M, Miller CA, Fass DM et al: Inhibitors of class 1 histone deacetylases reverse contextual memory deficits in a mouse model of Alzheimer's disease. Neuropsychopharmacology 2010; 35: 870–880. ArticleCAS Google Scholar
Morris B, Etoubleau C, Bourthoumieu S et al: Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome. Am J Med Genet Part A 2012; 158A: 2015–2020. Article Google Scholar
Wolff DJ, Clifton K, Karr C, Charles J : Pilot assessment of the subtelomeric regions of children with autism: detection of a 2q deletion. Genet Med 2002; 4: 10–14. Article Google Scholar
Smith M, Escamilla JR, Filipek P et al: Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR. Cytogenet Cell Genet 2001; 94: 15–22. ArticleCAS Google Scholar
Bijlsma EK, Aalfs CM, Sluitjer S et al: Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype. J Med Genet 1999; 36: 604–609. CASPubMedPubMed Central Google Scholar
Reddy KS, Flannery D, Farrer RJ : Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum. Am J Med Genet 1999; 84: 460–468. ArticleCAS Google Scholar
Galasso C, Lo-Castro A, Lalli C, Nardone AM, Gullotta F, Curatolo P : Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism. J Child Neurol 2008; 23: 802–806. Article Google Scholar