Broadening the phenotype associated with mutations in UPF3B: Two further cases with renal dysplasia and variable developmental delay

European Journal of Medical Genetics

Volumn 55, Issue 8-9, 2012, Pages 476-479

  Lynch, Sally Ann ^a   Nguyen, Lam Son ^b   Ng, Li Yen ^a   Waldron, Mary ^a   McDonald, Denise ^d   Gecz, Jozef ^b,c  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^d ADELAIDE AND MEATH HOSPITAL   (Ireland)

Author keywords

Autistic spectrum disorder; Macrocephaly; Renal dysplasia; UPF3B

Indexed keywords

ARTICLE; ATTENTION DEFICIT DISORDER; BIRTH WEIGHT; CASE REPORT; CESAREAN SECTION; CLINICAL EXAMINATION; CONGENITAL HEART MALFORMATION; CONSTIPATION; DEVELOPMENTAL DISORDER; ECHOCARDIOGRAPHY; EYE EXAMINATION; GENE; GENE MUTATION; GENETIC SCREENING; HEPATOSPLENOMEGALY; HETEROZYGOTE; HOSPITAL READMISSION; HUMAN; KIDNEY DYSPLASIA; MACROCEPHALY; MALE; PHENOTYPE; PHOTOTHERAPY; UPF3B GENE; X CHROMOSOME INACTIVATION;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHILD; CODON, NONSENSE; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; HUMANS; KIDNEY; MALE; PHENOTYPE; RNA-BINDING PROTEINS;

EID: 84864123489     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.03.010     Document Type: Article

References (11)

1. Gehring N.H., Neu-Yilik G., Schell T., Hentze M.W., Kulozik A.E. Y14 and hUPF3b form an NMD-activating complex. Mol. Cell 2003, 11(4):939-949.
2. Tarpey P.S., Raymond F.L., Nguyen L.S., Rodriguez J., Hackett A., Vandeleur L., Smith R., Shoubridge C., Edkins S., Stevens C., O'Meara S., Tofts C., et al. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat. Genet. 2007, 39(9):1127-1133.
3. Graham J.M., Tackels D., Dibbern K., Superneau D., Rogers C., Corning K., Schwartz C.E. FG syndrome: report of three new families with linkage to Xq12-q22.1. Am. J. Med. Genet. 1998, 80(2):145-156.
4. Dekel B. Profiling gene expression in kidney development. Nephron Exp. Nephrol. 2003, 95(1):e1-e6.
5. Nguyen L.S., Jolly L., Shoubridge C., Chan W.K., Huang L., Laumonnier F., Raynaud M., Hackett A., Field M., Rodriguez J., Srivastava A.K., Lee Y., et al. Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability. Mol. Psychiatry 2011 Dec 20, [Epub ahead of print].
6. F. Kuwayama, Y. Miyazaki, I. Ichikawa, Embryogenesis of the congenital anomalies of the kidney and the urinary tract 17 (9) (2007) 45-47.
7. Sorocos K., Kostoulias X., Cullen-McEwen L., Hart A.H., Bertham J.F., Caruana G. Expression patterns and roles of periostin during kidney and ureter development. J. Urol. 2011, 186(4):1437-1444.
8. Chan W.K., Bhalla A.D., Le Hir H., Nguyen L.S., Huang L., Gécz J., Wilkinson M.F. A UPF3-mediated regulatory switch that maintains RNA surveillance. Nat. Struct. Mol. Biol. 2009, 16(7):747-753.
9. Laumonnier F., Shoubridge C., Antar C., Nguyen L.S., Van Esch H., Kleefstra T., Briault S., Fryns J.P., Hamel B., Chelly J., Ropers H.H., Ronce N., et al. Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. Mol. Psychiatry 2010, 15(7):767-776.
10. Addington A.M., Gauthier J., Piton A., Hamdan F.F., Raymond A., Gogtay N., Miller R., Tossell J., Bakalar J., Germain G., Gochman P., Long R., et al. A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders. Mol. Psychiatry 2011, 16(3):238-239.
11. Szyszka P., Sharp S.I., Dedman A., Gurling H.M., McQuillin A. A nonconservative amino acid change in the UPF3B gene in a patient with schizophrenia. Psychiatr. Genet. 2011 Aug 22, [Epub ahead of print].