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Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.
Hum Genet. 1995 Dec; 96(6):721-5.HG

Abstract

Classical galactosemia, which is caused by deficiency of galactose-1-phosphate uridyltransferase, is characterized by acute problems of hepatocellular dysfunction, sepsis, cataracts and failure to thrive. Galactose limitation reverses these symptoms immediately; however, the long-term complications, such as mental retardation and ovarian failures are major problems in most of these patients. In order to investigate the molecular basis for phenotype variation in galactosemia, we have screened the most common mutation in the GALT gene, Q188R. We have further examined those patients who are heterozygous for Q188R or negative for this mutation by SSCP analysis and direct sequencing. In three male patients, we have identified, for the first time, two stop-codon mutations in the GALT gene, G212X (exon 7) and E340X (exon 10). Two patients of 8 and 28 years of age, respectively, who are compound heterozygotes for Q188R and G212X, have severe mental retardation and their general clinical condition is more severe than that of patients with missense mutations. The third patient, who is 8 years of age and who is homozygous for E340X, the N314D polymorphism and a silent substitution L218L, presents with a relatively normal physical and mental condition to date.

Authors+Show Affiliations

Medizinische Poliklinik, University of Munich, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8522334

Citation

Gathof, B S., et al. "Characterization of Two Stop Codon Mutations in the Galactose-1-phosphate Uridyltransferase Gene of Three Male Galactosemic Patients With Severe Clinical Manifestation." Human Genetics, vol. 96, no. 6, 1995, pp. 721-5.
Gathof BS, Sommer M, Podskarbi T, et al. Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation. Hum Genet. 1995;96(6):721-5.
Gathof, B. S., Sommer, M., Podskarbi, T., Reichardt, J., Braun, A., Gresser, U., & Shin, Y. S. (1995). Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation. Human Genetics, 96(6), 721-5.
Gathof BS, et al. Characterization of Two Stop Codon Mutations in the Galactose-1-phosphate Uridyltransferase Gene of Three Male Galactosemic Patients With Severe Clinical Manifestation. Hum Genet. 1995;96(6):721-5. PubMed PMID: 8522334.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation. AU - Gathof,B S, AU - Sommer,M, AU - Podskarbi,T, AU - Reichardt,J, AU - Braun,A, AU - Gresser,U, AU - Shin,Y S, PY - 1995/12/1/pubmed PY - 1995/12/1/medline PY - 1995/12/1/entrez SP - 721 EP - 5 JF - Human genetics JO - Hum Genet VL - 96 IS - 6 N2 - Classical galactosemia, which is caused by deficiency of galactose-1-phosphate uridyltransferase, is characterized by acute problems of hepatocellular dysfunction, sepsis, cataracts and failure to thrive. Galactose limitation reverses these symptoms immediately; however, the long-term complications, such as mental retardation and ovarian failures are major problems in most of these patients. In order to investigate the molecular basis for phenotype variation in galactosemia, we have screened the most common mutation in the GALT gene, Q188R. We have further examined those patients who are heterozygous for Q188R or negative for this mutation by SSCP analysis and direct sequencing. In three male patients, we have identified, for the first time, two stop-codon mutations in the GALT gene, G212X (exon 7) and E340X (exon 10). Two patients of 8 and 28 years of age, respectively, who are compound heterozygotes for Q188R and G212X, have severe mental retardation and their general clinical condition is more severe than that of patients with missense mutations. The third patient, who is 8 years of age and who is homozygous for E340X, the N314D polymorphism and a silent substitution L218L, presents with a relatively normal physical and mental condition to date. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/8522334/Characterization_of_two_stop_codon_mutations_in_the_galactose_1_phosphate_uridyltransferase_gene_of_three_male_galactosemic_patients_with_severe_clinical_manifestation_ DB - PRIME DP - Unbound Medicine ER -