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Ornithine transcarbamylase gene mutations and genotype-phenotype correlation in Polish patients with hyperammonemia type 2

100%

Popowska E., Ciara E., Rokicki D., Pronicka E.

Journal of Applied Genetics

1999

vol. 40

issue 1

43-52

Ornithine (OTC) deficiency is an X-linked disorder of the urea cycle inherited by a partially dominant trait. We studied one boy with a positive family history of sudden infant death syndrome (SIDS) and four girls with suspected OTC deficiency basing on pedigree analysis, spontaneous episodes of hyperammonemia and orotic aciduria, and on results of the allopurinol loading test. Four different point mutations, N198K in exon 6, A209V and E326K in exon 9, and IVS nt-2 aRg in splice acceptor site in intron 7 were identified in the OTC gene. In addition, one common polymorphism in exon 8 (Q270R) with normal OTC activity was observed. All the mutations were detected in heterozygous girls and, except one, in the patients' asymptomatic mothers. In the latter single case the mutation had occurred de novo. All of the affected patients developed a positive allopurinol test. Four affected but asymptomatic women (mothers and a sister of the patients) revealed normal or only slightly increased orotic aciduria following allopurinol ingestion. Our observation supports the probability of undefined or false negative allopurinol test results reported previously for heterozygous females.

Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes

76%

Popowska E., Sulek A., Kubalska J., Jezewska M., Trembacz H., Goryluk-Kozakiewicz B., Krajewska-Walasek M.

Journal of Applied Genetics

1998

vol. 39

issue 1

103-111

Five families with the Lesch-Nyhan syndrome (LNS) and two families with the Kelley-Seegmiller syndrome (KSS) were studied. Seven different mutations were identified. Two transitions, C526?T (Pro176Ser) and G481?A (Ala161Thr), in patients with a milder form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency were detected. In patients with the Lesch-Nyhan syndrome two transitions, G569?A (Gly190Glu) and C508?T (Arg170Ter), two transversions, C222?A (Phe74Leu) and C482?A (Ala161Glu), and a deletion of seven nucleotides (from A394 to G400) were observed. All except two of the identified mutations are novel. The C222?A substitution in exon III is located within one of the clusters of hot spots of the HPRT gene and has been previously described in four unrelated patients. The other recurrent mutation C508?T in exon VII has been reported in eight families.

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gen

52%

Popowska E., Pronicka P. E., Pronicka E., Sulek S. A., Sulek A., Jurkiewicz J. D., Jurkiewicz D., Rowe R. P., Rowe P., Rowinska R. E., Rowinska E., Krajewska-Walasek K.-W. M., Krajewska-Walasek M.

Journal of Applied Genetics

2000

vol. 41

issue 4

293-302

We present twenty-nine PHEX gene mutations extending our previous work, giving it to a total of 37 different mutations identified in Polish patients with familial or sporadic X-linked hypophosphatemia. Deletions, insertions and nucleotide substitutions leading to frameshift (27%), stop codon (29%), splice site (24%), and missense mutations (20%) were found. The mutations are distributed along the gene, exons 3, 4, 11, 12, 14, 15, 17, 20 and 22 are regions with the most frequent mutation events. Four mutations, P534L, G579R, R549X and IVS15+1nt, recurred in three, four, two and three unrelated patients, respectively. They have also been detected in affected persons from other countries. Twenty-eight mutations are specific for Polish population and almost all of them are unique. Most of the identified mutations are expected to result in major changes in protein structure and/or function.

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3 Journal of Applied Genetics

1 2000

1 1999

1 1998

3 Popowska E.

2 Krajewska-Walasek M.

2 Pronicka E.

2 Sulek A.

1 Ciara E.

1 Goryluk-Kozakiewicz B.

1 Jezewska M.

1 Jurkiewicz D.

1 Jurkiewicz J. D.

1 Krajewska-Walasek K.-W. M.

1 Kubalska J.

1 Pronicka P. E.

1 Rokicki D.

1 Rowe P.

1 Rowe R. P.

1 Rowinska E.

1 Rowinska R. E.

1 Sulek S. A.

1 Trembacz H.

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Ornithine transcarbamylase gene mutations and genotype-phenotype correlation in Polish patients with hyperammonemia type 2

Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gen