title: PK Mondor: prenatal diagnosis of a frameshift mutation in the LR pyruvate kinase gene associated with severe hereditary non-spherocytic haemolytic anaemia.
abstract: A mutant form of pyruvate kinase (PK) from the red blood cells of a consanguineous family with severe non-spherocytic haemolytic anaemia has been characterized by polymerase chain reaction (PCR) amplification and sequencing. The variant enzyme was named PK Mondor, according to the recommendations of the International Committee for Standardisation in Haematology. The propositus lacked PK activity and the low level of PK activity found resulted more likely from PK-M2 (fetal isozyme) expression in the red blood cells of the propositus. PK Mondor corresponds to a frameshift mutation with deletion of one G in a repetition of four Gs in positions 1231-1234. This family, whose first child was stillborn and whose second was homozygous for the frameshift mutation, requested prenatal diagnosis during the third pregnancy. Diagnosis was made after chorionic biopsy by a specific approach combining PCR amplification and restriction enzyme digestion.
authors.affiliation: INSERM U.91, Hôpital Henri Mondor, Créteil, France.
authors.forename: H
authors.initials: H
authors.lastname: Rouger
authors.forename: E
authors.initials: E
authors.lastname: Girodon
authors.forename: M
authors.initials: M
authors.lastname: Goossens
authors.forename: F
authors.initials: F
authors.lastname: Galactéros
authors.forename: M
authors.initials: M
authors.lastname: Cohen-Solal
mesh_terms: D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*; D001483:Base Sequence; D015193:Chorionic Villi Sampling; D005260:Female; D016368:Frameshift Mutation; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011770:Pyruvate Kinase / Q000235:genetics*
chemical_list: D011770:Pyruvate Kinase