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May 1971, Vol 121, No. 5 >
Article | May 1971

Biochemical and Genetic Investigation of the de Lange Syndrome FREE

William L. Daniel, PhD; James V. Higgins, PhD
[+] Author Affiliations

Received for publication July 23, 1970.

Reprint requests to Genetics Counseling Service, Department of Biological Sciences, Illinois State University, Normal, Ill 61761 (Dr. Daniel).


Am J Dis Child. 1971;121(5):401-405. doi:10.1001/archpedi.1971.02100160071007.
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Increased serum α-ketoglutarate and serum glutamate levels were observed in ten patients presenting the characteristic features of the de Lange syndrome. Both anomalies may prove beneficial in diagnosis of the syndrome. Serum glutaminase, serum glutamic oxaloacetic transaminase (SGOT), serum glutamic pyruvic transaminase (SGPT), and glutamic dehydrogenase activities were within the normal ranges. Hypoaminoacidura and hypogammaglobulinemia were present in six of the patients. Immunological studies indicated that these patients had normal IgA, IgG, and IgM levels. Family studies revealed elevated or high-normal glutamate levels in the parents and certain siblings of the patients, indicating that the hyperglutamicacidemia may be inherited. All de Lange cases appeared to be sporadic, although a second cousin of one of the patients may have had the syndrome. Synophrys and clinodactyly were observed in relatives of one of the patients. The de Lange syndrome may be the result of an inherited metabolic error, although the exact nature of the enzymatic defect is uncertain.

REFERENCES

1 +
Ptacek LJ, Opitz JM, Smith DW, et al:  The Cornelia de Lange syndrome . J Pediat 63:1000-1020, 1963;.
2 +
Opitz JM, Segal AT, Lehrke RL, et al:  The etiology of the Brachmann-de Lange syndrome . Lancet 2:1019, 1964;.
3 +
Reprinted in Birth Defects Reprint Series, National Foundation, PE-RS 16:22-23, 1965.
4 +
Jervis GA, Stimson CW:  De Lange syndrome. The "Amsterdam type" of mental defect with congenital malformation . J Pediat 63:634-645, 1963;.
5 +
McIntyre MS, Eisen JD:  The Cornelia de Lange syndrome: A case report with mild mental retardation . Amer J Ment Defic 70:438-442, 1965;.
6 +
Silver HK:  The de Lange syndrome: Typus amstelodamensis . Amer J Dis Child 108:523-529, 1964;.
7 +
Bartsocas CS, Crawford JD, Littlefield JW:  Immunoglobulins in de Lange syndrome . Lancet 2:733-734, 1968;.
8 +
Calo S, Gualandri W, Radice C:  Mosaicismo XY-XO in un caso di sindrome di Cornelia de Lange . Minerva Pediat 20:2600-2604, 1968;.
9 +
Pashayan H, Whelan D, Guttman S, et al:  Variability of the de Lange syndrome: Report of three cases and genetic analysis of 54 families . J Pediat 75:853-858, 1969;.
10 +
Hart ZH, Jaslow RI, Gomez MR:  The de Lange syndrome . Amer J Dis Child 109:325-332, 1965;.
11 +
Spackman DH, Stein WH, Moore S:  Automatic recording apparatus for use in the chromatography of amino acids . Anal Chem 30:1190-1206, 1958;.
12 +
Trevelyan WE, Proctor DP, Harrison JS:  Detection of sugars on paper chromatograms . Nature 166:444-445, 1950;.
13 +
Wagner H, Horhammer L, Wolff P:  Dunnschicht-chromatographie von Phosphatiden und Glykolipiden . Biochem Z 334:175-184, 1961;.
14 +
Kvamme E, Hellman L:  Isolation of pyruvic and α-ketoglutaric acids from blood and tissues in the presence of carbon-14 acetate . Anal Chem 26:1195-1197, 1954;.
15 +
Seligson D, Shapiro B:  α-Ketoacids in blood and urine studied by paper chromatography . Anal Chem 24:754-755, 1952;.
16 +
Youngburg GE, Youngburg MV:  Phosphorus metabolism: System of blood phosphorus analysis . J Lab Clin Med 16:158-166, 1930;.
17 +
Scheidegger JJ:  Une micro-methode de l'immunoelectrophorese . Int Arch Allerg 7:103-110, 1955;.
18 +
Davis BJ:  Disc electrophoresis: II. Method and application to human serum proteins . Ann NY Acad Sci 121:404-427, 1962;.
19 +
Cohn EJ, Gurd FRN, Surgenor DM, et al:  A system for the separation of the components of human blood: Quantitative procedures for the separation of the protein components of human plasma . J Amer Chem Soc 72:465-474, 1950;.
20 +
Reitman S, Frankel S:  A colorimetric method for the determination of serum glutamic oxalacetic and glutamic pyruvic transaminases . Amer J Clin Path 28:56-63, 1957;.
21 +
Mashburn LT, Wriston JC Jr:  Tumor inhibitory effort of L-asparaginase . Biochem Biophys Res Commun 12:50-55, 1963;.
22 +
Meister A, in Colowick SP, Kaplan NO (eds): Methods in Enzymology . New York, Academic Press Inc, 1955;, vol 2, pp 380-385.
23 +
Dahlqvist A, Hall B, Källen B:  Blood cell galactose-1-phosphate uridyl transferase activity in dysplastic patients, with and without chromosomal aberrations . Hum Hered 19:628-640, 1969;.

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References

1 +
Ptacek LJ, Opitz JM, Smith DW, et al:  The Cornelia de Lange syndrome . J Pediat 63:1000-1020, 1963;.
2 +
Opitz JM, Segal AT, Lehrke RL, et al:  The etiology of the Brachmann-de Lange syndrome . Lancet 2:1019, 1964;.
3 +
Reprinted in Birth Defects Reprint Series, National Foundation, PE-RS 16:22-23, 1965.
4 +
Jervis GA, Stimson CW:  De Lange syndrome. The "Amsterdam type" of mental defect with congenital malformation . J Pediat 63:634-645, 1963;.
5 +
McIntyre MS, Eisen JD:  The Cornelia de Lange syndrome: A case report with mild mental retardation . Amer J Ment Defic 70:438-442, 1965;.
6 +
Silver HK:  The de Lange syndrome: Typus amstelodamensis . Amer J Dis Child 108:523-529, 1964;.
7 +
Bartsocas CS, Crawford JD, Littlefield JW:  Immunoglobulins in de Lange syndrome . Lancet 2:733-734, 1968;.
8 +
Calo S, Gualandri W, Radice C:  Mosaicismo XY-XO in un caso di sindrome di Cornelia de Lange . Minerva Pediat 20:2600-2604, 1968;.
9 +
Pashayan H, Whelan D, Guttman S, et al:  Variability of the de Lange syndrome: Report of three cases and genetic analysis of 54 families . J Pediat 75:853-858, 1969;.
10 +
Hart ZH, Jaslow RI, Gomez MR:  The de Lange syndrome . Amer J Dis Child 109:325-332, 1965;.
11 +
Spackman DH, Stein WH, Moore S:  Automatic recording apparatus for use in the chromatography of amino acids . Anal Chem 30:1190-1206, 1958;.
12 +
Trevelyan WE, Proctor DP, Harrison JS:  Detection of sugars on paper chromatograms . Nature 166:444-445, 1950;.
13 +
Wagner H, Horhammer L, Wolff P:  Dunnschicht-chromatographie von Phosphatiden und Glykolipiden . Biochem Z 334:175-184, 1961;.
14 +
Kvamme E, Hellman L:  Isolation of pyruvic and α-ketoglutaric acids from blood and tissues in the presence of carbon-14 acetate . Anal Chem 26:1195-1197, 1954;.
15 +
Seligson D, Shapiro B:  α-Ketoacids in blood and urine studied by paper chromatography . Anal Chem 24:754-755, 1952;.
16 +
Youngburg GE, Youngburg MV:  Phosphorus metabolism: System of blood phosphorus analysis . J Lab Clin Med 16:158-166, 1930;.
17 +
Scheidegger JJ:  Une micro-methode de l'immunoelectrophorese . Int Arch Allerg 7:103-110, 1955;.
18 +
Davis BJ:  Disc electrophoresis: II. Method and application to human serum proteins . Ann NY Acad Sci 121:404-427, 1962;.
19 +
Cohn EJ, Gurd FRN, Surgenor DM, et al:  A system for the separation of the components of human blood: Quantitative procedures for the separation of the protein components of human plasma . J Amer Chem Soc 72:465-474, 1950;.
20 +
Reitman S, Frankel S:  A colorimetric method for the determination of serum glutamic oxalacetic and glutamic pyruvic transaminases . Amer J Clin Path 28:56-63, 1957;.
21 +
Mashburn LT, Wriston JC Jr:  Tumor inhibitory effort of L-asparaginase . Biochem Biophys Res Commun 12:50-55, 1963;.
22 +
Meister A, in Colowick SP, Kaplan NO (eds): Methods in Enzymology . New York, Academic Press Inc, 1955;, vol 2, pp 380-385.
23 +
Dahlqvist A, Hall B, Källen B:  Blood cell galactose-1-phosphate uridyl transferase activity in dysplastic patients, with and without chromosomal aberrations . Hum Hered 19:628-640, 1969;.

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