Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes

Preaxial polydactyly is a common limb malformation in humans with variable clinical expression. Different types of triphalangeal thumb‐preaxial polydactyly phenotypes were mapped to the chromosome 7q36 region. We studied a large Turkish family of 69 individuals, of whom 22 individuals were affected....

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Bibliographic Details
Published in:Clinical genetics 2009-07, Vol.76 (1), p.85-90
Main Authors: Semerci, CN, Demirkan, F, Özdemir, M, Biskin, E, Akin, B, Bagci, H, Akarsu, NA
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
chromosome 7q36
Chromosome Segregation
Chromosomes, Human, Pair 7 - genetics
Classical genetics, quantitative genetics, hybrids
Deformities
Diseases of the osteoarticular system
DNA Mutational Analysis
Female
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genetic disorders
Genetic Linkage
Genetics of eukaryotes. Biological and molecular evolution
Genotype & phenotype
Haplotypes
Heterozygote
Homozygote
Human
Humans
Introns - genetics
LMBR1 gene
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical genetics
Medical sciences
Membrane Proteins - genetics
Molecular and cellular biology
Molecular Sequence Data
Pedigree
Phenotype
Polydactyly - genetics
preaxial polydactyly
triphalangeal thumb
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Summary:Preaxial polydactyly is a common limb malformation in humans with variable clinical expression. Different types of triphalangeal thumb‐preaxial polydactyly phenotypes were mapped to the chromosome 7q36 region. We studied a large Turkish family of 69 individuals, of whom 22 individuals were affected. In all, 11 affected family members were clinically and radiologically evaluated. All affected individuals had a triphalangeal thumb and a preaxial (hypoplastic) extra digit bilaterally, with minimal intrafamilial variation. No feet involvement was observed. Linkage and haplotype analyses using 20 informative meioses confirmed the 7q36 region contained the LIMBR1 gene. Maximum logarithm of the odds (LOD) scores were obtained with DNA markers D7S550 and D7S2423. We have further identified a novel C to T alteration at position 4909 bp in the critical zone of polarizing activity regulatory sequence (ZRS) region, in the intron 5, of the LMBR1 gene. One affected male with homozygous status and no phenotypic difference from affected family members with heterozygous status represented the first homozygote case of the triphalangeal thumb‐preaxial polydactyly phenotype.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2009.01192.x