The mutation spectrum in Holt-Oram syndrome

Of eight new sporadic cases studied, three have yielded mutations. [...]in the 34 familial cases studied by us, eight mutations have been identified, and six mutations have been identified in 13 sporadic cases. Mutation detection is also fully repeatable in our hands.\n 6 Family Pedigree No Mutation...

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Published in:Journal of medical genetics 2000-10, Vol.37 (10), p.785-787
Main Authors: CROSS, STEPHEN J, CHING, YUNG-HAO, LI, QUAN YI, ARMSTRONG-BUISSERET, LINDSAY, SPRANGER, STEPHANIE, LYONNET, STANISLAW, BONNET, DAMIEN, PENTTINEN, MAILA, JONVEAUX, PHILIPPE, LEHEUP, BRUNO, MORTIER, GEERT, VAN RAVENSWAAIJ, CONNY, GARDINER, CAROL-ANNE, BROOK, J DAVID, NEWBURY-ECOB, RUTH
Format: Article
Language:English
Subjects:
Chromosome Mapping
Chromosomes, Human, Pair 12 - genetics
Defects
DNA Mutational Analysis
Electrocardiography
Exons - genetics
Female
Fingers & toes
Genes
Genetic Testing
Genetic Variation - genetics
Genotype
Genotype & phenotype
Heart Block - genetics
Heart Defects, Congenital - genetics
Heart Septal Defects - genetics
Humans
Introns - genetics
Letters to the Editor
Limb Deformities, Congenital - genetics
Male
Methods
Molecular Sequence Data
Mutation
Mutation - genetics
Pedigree
Phenotype
Polymorphism, Single-Stranded Conformational
Syndactyly - genetics
Syndrome
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Summary:Of eight new sporadic cases studied, three have yielded mutations. [...]in the 34 familial cases studied by us, eight mutations have been identified, and six mutations have been identified in 13 sporadic cases. Mutation detection is also fully repeatable in our hands.\n 6 Family Pedigree No Mutation Skeletal abnormality Cardiac abnormality H8f I.1 Exon 8 Bilateral hypoplastic thumbs AV block nt1500 C->T Syndactyly 1/2 - II.2 Right triphalangeal thumb ASD Left absent thumb Bilateral radial hypoplasia H12f I.1 Exon 8 Bilateral hypoplastic thumbs AV block nt1500 C->T Syndactyly 1/2 - II.1 Bilateral hypoplastic thumbs AV block Syndactyly 1/2 - II.3 Absent thumbs VSD Bilateral radial hypoplasia H22s Exon 8 Bilateral triphalangeal thumbs ASD nt1500 C->T Bilateral radial hypoplasia PpHs Exon 8 Bilateral absent thumbs AV block nt1500 C->T Left radial aplasia Right radial hypoplasia Ghf Exon 8 Bilateral absent thumbs ASD nt1500 C->T Right radial aplasia Left radial hypoplasia Along with the truncation forms already described, we have identified two new mutations which each result in a single amino acid substitution.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.37.10.785