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Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients
Author(s) -
Wakutani Y.,
Nakayasu H.,
Takeshima T.,
Adachi M.,
Kawataki M.,
Kihira K.,
Sawada H.,
Bonno M.,
Yamamoto H.,
Nakashima K.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000045842.59768.ea
Subject(s) - compound heterozygosity , mutation , mutant , mutation testing , biology , heterozygote advantage , genetics , gene , microbiology and biotechnology , allele
Summary: We describe the results of mutational analysis of the carbamoylphosphate synthetase I (CPSI) gene in three nonconsanguineous patients with CPSI deficiency. Compound heterozygotes of 3422T/G (V1141G) plus 3784C/T (R1262X), 1528delG (510‐514 ARQLX) plus 2752T/C (S918P), and 2549G/A (R850H) plus 2797delT (L933X) were identified through genomic analysis; however, the 2797delT (L933X) mutation was not detected in cDNA analysis using biopsied liver, suggesting that mRNA expression from this mutant allele is absent or markedly low.