IMAGe association and congenital adrenal hypoplasia: No disease-causing mutations found in the ACD gene

Molecular Genetics and Metabolism

Volumn 88, Issue 1, 2006, Pages 66-70

  Hutz, Janna E ^a   Krause, Andrea S ^a   Achermann, John C ^b   Vilain, Eric ^c   Tauber, Maïthé ^d   Lecointre, Claudine ^e   McCabe, Edward R B ^c   Hammer, Gary D ^a   Keegan, Catherine E ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d HÔPITAL DES ENFANTS   (France)

^e HÔPITAL CHARLES NICOLLE   (France)

Author keywords

ACD; Adrenal hypoplasia; Adrenal hypoplasia congenita; Adrenal insufficiency; Adrenocortical dysplasia; IMAGe association

Indexed keywords

ADRENAL CORTEX FUNCTION; ADRENAL DISEASE; ADRENOCORTICAL DYSPLASIA GENE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPOPLASIA; CONTROLLED STUDY; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENITAL MALFORMATION; HUMAN; HUMAN CELL; HYPOPLASIA; IMAGE SYNDROME; INTRAUTERINE GROWTH RETARDATION; METAPHYSIS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; TELOMERE;

ADRENAL INSUFFICIENCY; ANIMALS; BONE DISEASES, DEVELOPMENTAL; FETAL GROWTH RETARDATION; HUMANS; MICE; MICE, MUTANT STRAINS; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME;

EID: 33646029690     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.01.006     Document Type: Article

References (21)

1. Beamer W.G., Sweet H.O., Bronson R.T., Shire J.G., Orth D.N., and Davisson M.T. Adrenocortical dysplasia: a mouse model system for adrenocortical insufficiency. J. Endocrinol. 141 (1994) 33-43
2. Keegan C.E., Hutz J.E., Else T., Adamska M., Shah S.P., Kent A.E., Howes J.M., Beamer W.G., and Hammer G.D. Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator. Hum. Mol. Genet. 14 (2005) 113-123
3. Phelan J.K., and McCabe E.R. Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita. Hum. Mutat. 18 (2001) 472-487
4. Keegan C.E., and Hammer G.D. Recent insights into organogenesis of the adrenal cortex. Trends Endocrinol. Metab. 13 (2002) 200-208
5. Kruger G., Mix M., Pelz L., and Dunker H. Cytomegalic type of congenital adrenal hypoplasia due to autosomal recessive inheritance. Am. J. Med. Genet. 46 (1993) 475
6. Vilain E., Le Merrer M., Lecointre C., Desangles F., Kay M.A., Maroteaux P., and McCabe E.R. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J. Clin. Endocrinol. Metab. 84 (1999) 4335-4340
7. Lienhardt A., Mas J.C., Kalifa G., Chaussain J.L., and Tauber M. IMAGe association: additional clinical features and evidence for recessive autosomal inheritance. Horm. Res. 57 suppl. 2 (2002) 71-78
8. Pedreira C.C., Savarirayan R., and Zacharin M.R. IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. J. Pediatr. 144 (2004) 274-277
9. Bergada I., Del Rey G., Lapunzina P., Bergada C., Fellous M., and Copelli S. Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance. J. Clin. Endocrinol. Metab. 90 (2005) 3186-3190
10. Liu D., Safari A., O'Connor M.S., Chan D.W., Laegeler A., Qin J., and Songyang Z. PTOP interacts with POT1 and regulates its localization to telomeres. Nat. Cell Biol. 6 (2004) 673-680
11. Ye J.Z., Hockemeyer D., Krutchinsky A.N., Loayza D., Hooper S.M., Chait B.T., and de Lange T. POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex. Genes Dev. 18 (2004) 1649-1654
12. The International HapMap Project, Nature 426 (2003) 789-796.
13. Kuivenhoven J.A., Weibusch H., Pritchard P.H., Funke H., Benne R., Assmann G., and Kastelein J.J. An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease). J. Clin. Invest. 98 (1996) 358-364
14. Fairbrother W.G., Yeh R.F., Sharp P.A., and Burge C.B. Predictive identification of exonic splicing enhancers in human genes. Science 297 (2002) 1007-1013
15. J. Schug, G.C. Overton, TESS: Transcription Element Search Software on the WWW 1997. Available from: .
16. Sandelin A., Alkema W., Engstrom P., Wasserman W.W., and Lenhard B. JASPAR: an open-access database for eukaryotic transcription factor binding profiles. Nucleic Acids Res. 32 (2004) D91-D94
17. Hoffman S.M., Hromas R., Amemiya C., and Mohrenweiser H.W. The location of MZF-1 at the telomere of human chromosome 19q makes it vulnerable to degeneration in aging cells. Leuk. Res. 20 (1996) 281-283
18. Ning Y., Xu J.F., Li Y., Chavez L., Riethman H.C., Lansdorp P.M., and Weng N.P. Telomere length and the expression of natural telomeric genes in human fibroblasts. Hum. Mol. Genet. 12 (2003) 1329-1336
19. Hasegawa T., Fukami M., Sato N., Katsumata N., Sasaki G., Fukutani K., Morohashi K., and Ogata T. Testicular dysgenesis without adrenal insufficiency in a 46, XY patient with a heterozygous inactive mutation of steroidogenic factor-1. J. Clin. Endocrinol. Metab. 89 (2004) 5930-5935
20. Mallet D., Bretones P., Michel-Calemard L., Dijoud F., David M., and Morel Y. Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency. J. Clin. Endocrinol. Metab. 89 (2004) 4829-4832
21. Park S.Y., Meeks J.J., Raverot G., Pfaff L.E., Weiss J., Hammer G.D., and Jameson J.L. Nuclear receptors Sf1 and Dax1 function cooperatively to mediate somatic cell differentiation during testis development. Development 132 (2005) 2415-2423