Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 9, 2012, Pages 2124-2130

  Tammachote, Rachaneekorn ^a   Kingsuwannapong, Nelawat ^a   Tongkobpetch, Siraprapa ^a,b   Srichomthong, Chalurmpon ^a,b   Yeetong, Patra ^a,b   Kingwatanakul, Pornchai ^a   Monico, Carla G ^c   Suphapeetiporn, Kanya ^a,b   Shotelersuk, Vorasuk ^a,b  

^a CHULALONGKORN UNIVERSITY   (Thailand)

^b KING CHULALONGKORN MEMORIAL HOSPITAL   (Thailand)

^c MAYO CLINIC   (United States)

Author keywords

AGXT; Brachydactyly mental retardation syndrome; HDAC4; Novel mutation; Primary hyperoxaluria type 1

Indexed keywords

ALANINE GLYOXYLATE AMINOTRANSFERASE; CITRIC ACID; GENOMIC DNA; HISTONE DEACETYLASE 4; OXALIC ACID; PYRIDOXINE;

ADOLESCENT; ALANINE GLYOXYLATE AMINOTRANSFERASE GENE; ANIMAL CELL; ARTICLE; ATTENTION DEFICIT DISORDER; AUTOSOMAL DOMINANT DISORDER; BRACHYDACTYLY MENTAL RETARDATION SYNDROME; CASE REPORT; CHILD; CHROMOSOME 2Q; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; ECHOGRAPHY; ENZYME ACTIVITY; EXTRACHROMOSOMAL INHERITANCE; FEMALE; FINGER MALFORMATION; FLUID THERAPY; GENE; GENE MUTATION; HAPLOTYPE; HISTONE DEACETYLASE 4 GENE; HUMAN; HUMAN CELL; HYPERACTIVITY; KIDNEY CALCIFICATION; MASS FRAGMENTOGRAPHY; MICROSATELLITE MARKER; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NONHUMAN; OBESITY; OXALOSIS 1; PEROXISOME; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; STRABISMUS; TREATMENT DURATION; URINALYSIS; WILD TYPE;

BRACHYDACTYLY; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; HAPLOTYPES; HUMANS; HYPEROXALURIA, PRIMARY; INTELLECTUAL DISABILITY; MALE; MICROSCOPY, FLUORESCENCE; MUTATION; PEDIGREE; SUBCELLULAR FRACTIONS; TRANSAMINASES;

EID: 84865539172     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35495     Document Type: Article

References (27)

1. Bakeberg JL, Tammachote R, Woollard JR, Hogan MC, Tuan HF, Li M, van Deursen JM, Wu Y, Huang BQ, Torres VE, Harris PC, Ward CJ. 2011. Epitope-tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin. J Am Soc Nephrol 22:2266-2277.
2. Birdsey GM, Lewin J, Cunningham AA, Bruford MW, Danpure CJ. 2004. Differential enzyme targeting as an evolutionary adaptation to herbivory in carnivora. Mol Biol Evol 21:632-646.
3. Broman KW, Murray JC, Sheffield VC, White RL, Weber JL. 1998. Comprehensive human genetic maps: Individual and sex-specific variation in recombination. Am J Hum Genet 63:861-869.
4. Caldwell EF, Mayor LR, Thomas MG, Danpure CJ. 2004. Diet and the frequency of the alanine:glyoxylate aminotransferase Pro11Leu polymorphism in different human populations. Hum Genet 115:504-509.
5. Chaabouni M, Le Merrer M, Raoul O, Prieur M, de Blois MC, Philippe A, Vekemans M, Romana SP. 2006. Molecular cytogenetic analysis of five 2q37 deletions: Refining the brachydactyly candidate region. Eur J Med Genet 49:255-263.
6. Chevalier-Porst F, Rolland MO, Cochat P, Bozon D. 2005. Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1. Am J Med Genet Part A 132A:80-83.
7. Cohen TJ, Barrientos T, Hartman ZC, Garvey SM, Cox GA, Yao TP. 2009. The deacetylase HDAC4 controls myocyte enhancing factor-2-dependent structural gene expression in response to neural activity. FASEB J 23:99-106.
8. Coulter-Mackie MB, Lian Q. 2006. Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: Study of a spectrum of mutations. Mol Genet Metab 89:349-359.
9. Coulter-Mackie MB, Rumsby G, Applegarth DA, Toone JR. 2001. Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria. Mol Genet Metab 74:314-321.
10. Danpure CJ. 2006. Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways. Biochim Biophys Acta 1763:1776-1784.
11. Danpure CJ, Jennings PR. 1986. Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I. FEBS Lett 201:20-24.
12. Danpure CJ, Rumsby G. 2004. Molecular aetiology of primary hyperoxaluria and its implications for clinical management. Expert Rev Mol Med 6:1-16.
13. Djordjevic S, Zhang X, Bartlam M, Ye S, Rao Z, Danpure CJ. 2010. Structural implications of a G170R mutation of alanine:glyoxylate aminotransferase that is associated with peroxisome-to-mitochondrion mistargeting. Acta Crystallogr Sect F Struct Biol Cryst Commun 66:233-236.
14. Glenisson W, Castronovo V, Waltregny D. 2007. Histone deacetylase 4 is required for TGFbeta1-induced myofibroblastic differentiation. Biochim Biophys Acta 1773:1572-1582.
15. Luedi PP, Dietrich FS, Weidman JR, Bosko JM, Jirtle RL, Hartemink AJ. 2007. Computational and experimental identification of novel human imprinted genes. Genome Res 17:1723-1730.
16. Masyuk TV, Huang BQ, Ward CJ, Masyuk AI, Yuan D, Splinter PL, Punyashthiti R, Ritman EL, Torres VE, Harris PC, LaRusso NF. 2003. Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat. Gastroenterology 125:1303-1310.
17. Miyake N, Kurotaki N, Sugawara H, Shimokawa O, Harada N, Kondoh T, Tsukahara M, Ishikiriyama S, Sonoda T, Miyoshi Y, Sakazume S, Fukushima Y, Ohashi H, Nagai T, Kawame H, Kurosawa K, Touyama M, Shiihara T, Okamoto N, Nishimoto J, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. 2003. Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome. Am J Hum Genet 72:1331-1337.
18. Monico CG, Rossetti S, Schwanz HA, Olson JB, Lundquist PA, Dawson DB, Harris PC, Milliner DS. 2007. Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. J Am Soc Nephrol 18:1905-1914.
19. Nishiyama K, Berstein G, Oda T, Ichiyama A. 1990. Cloning and nucleotide sequence of cDNA encoding human liver serine-pyruvate aminotransferase. Eur J Biochem 194:9-18.
20. Nogueira PK, Vuong TS, Bouton O, Maillard A, Marchand M, Rolland MO, Cochat P, Bozon D. 2000. Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1. Hum Mutat 15:384-385.
21. Rumsby G, Weir T, Samuell CT. 1997. A semiautomated alanine:glyoxylate aminotransferase assay for the tissue diagnosis of primary hyperoxaluria type 1. Ann Clin Biochem 34(Pt 4):400-404.
22. Sobetzko D, Braga S, Rudeberg A, Superti-Furga A. 2000. Achondroplasia with the FGFR3 1138g→a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father. J Med Genet 37:958-959.
23. Sun X, Wei L, Chen Q, Terek RM. 2009. HDAC4 represses vascular endothelial growth factor expression in chondrosarcoma by modulating RUNX2 activity. J Biol Chem 284:21881-21890.
24. Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G. 2009. Primary hyperoxaluria type 1: Update and additional mutation analysis of the AGXT gene. Hum Mutat 30:910-917.
25. Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, 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.
26. Wilson LC, Leverton K, Oude Luttikhuis ME, Oley CA, Flint J, Wolstenholme J, Duckett DP, Barrow MA, Leonard JV, Read AP, et al. 1995. Brachydactyly and mental retardation: An Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet 56:400-407.
27. Wirth B, Schmidt T, Hahnen E, Rudnik-Schoneborn S, Krawczak M, Muller-Myhsok B, Schonling J, Zerres K. 1997. De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet 61:1102-1111.