Phosphoserine phosphatase deficiency in a patient with Williams syndrome

Journal of Medical Genetics

Volumn 34, Issue 7, 1997, Pages 594-596

  Jaeken, Jaak ^a   Detheux, Michel ^b   Fryns, Jean Pierre ^c   Collet, Jean François ^b   Alliet, Philippe ^d   Van Schaftingen, Emile ^b  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b Intl Inst Molec Cell Pathol C   (Belgium)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d VIRGA JESSE HOSPITAL   (Belgium)

Author keywords

Chromosome 7; Elastin; Phosphoserine phosphatase; Williams syndrome

Indexed keywords

ELASTIN; PHOSPHATASE; PHOSPHOSERINE; SERINE;

AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CHROMOSOME 7Q; ENZYME ACTIVITY; FACE DYSMORPHIA; FIBROBLAST; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GROWTH RETARDATION; HUMAN; HYPOPHOSPHATASIA; INTRAUTERINE GROWTH RETARDATION; LYMPHOBLAST; MALE; ORAL DRUG ADMINISTRATION; POSTNATAL GROWTH; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; WILLIAMS BEUREN SYNDROME;

EID: 0030746091     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.7.594     Document Type: Article

References (18)

1. Knox WE, Herzfeld A, Hudson J. Phosphoserine phosphatase distribution in normal and neoplastic rat tissues. Arch Biochem Biophys 1969;132:397-403.
2. Snell K. Enzymes of serine metabolism in normal and neoplastic rat tissues. Biochim Biophys Acta 1985;843:276-81.
3. Snell K. The duality of pathways for serine biosynthesis is a fallacy. Trends Biochem Sci 1986;11:241-3.
4. Snell K. Enzymes of serine metabolism in normal, developing and neoplastic rat tissues. Adv Enzyme Regul 1983;22:325-400.
5. Jaeken J, Detheux M, Van Maldergem L, Carchon H, Foulon M, Van Schaftingen M. 3-phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. Arch Dis Child 1996;74:542-5.
6. Williams JCP, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation 1961;24:1311-18.
7. Beuren AJ, Apitz J, Harmjanz O. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 1962;26:1325-40.
8. Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL. Natural history of Williams syndrome: physical characteristics. J Pediair 1988;113:318-26.
9. Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993;5:11-16.
10. 32P]fructose-1,6-bisphosphate with high specific radioactivity. Anal Biochem 1979;96:500-3.
11. Borkenhagen LF, Kennedy EP. The enzymatic exchange of L-serine with O-phospho-L-serine catalyzed by a specific phosphatase. J Biol Chem 1959;234:849-53.
12. Moro-Furlani AM, Turner VS, Hopkinson DA. Genetical and biochemical studies on human phosphoserine phosphatase. Ann Hum Genet 1980;43:323-33.
13. Lund K, Merrill DK, Guynn RW. The reactions of the phosphorylated pathway of L-serine biosynthesis: thermodynamic relationships in rabbit liver in vivo. Arch Biochem Biophys 1985;237:186-96.
14. Sparkes RS, Mohandas T, Sparkes MC. The human phosphoserine phosphatase gene (PSP) is mapped to chromosome 7 by somatic cell genetic analysis. Cytogenet Cell Genet 1983;35:70-1.
15. Koch GA, Eddy RL, Haley LL, Byers MG, McAvoy M, Shows TB, Assignment of the human phosphoserine phosphatase gene (PSP) to the pter→q22 region of chromosome 7. Cytogenet Cell Genet 1983;35:67-9.
16. Novelli G, Dallapiccola B. Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2. Ann Genet (Paris) 1988;31:195-6.
17. Minelli A, Piantanida M, Maserati E, Campagnoli E, Pasquali F, Danesino C. Gene dosage effect in acquired monosomy 7. Genes Chrom Cancer 1990;1:216-20.
18. Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 1995:1015-368.