caa a22 4500 397575378 CHVBK 20180308164854.0 cr unu---uuuuu 161202e199612 xx s 000 0 eng 10.1093/hmg/5.12.2049 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.12.2049 Linkage of Blepharophimosis Syndrome in a Large Indian Pedigree to Chromosome 7p [Elektronische Daten] [Marion Maw, Bibhas Kar, Jyotirmay Biswas, Partha Biswas, Derek Nancarrow, Robyn Bridges, Govindasamy Kumaramanickavel, Michael Denton, S. S. Badrinath] Blepharophimosis syndrome (BPES) is an autosomal dominant disorder involving abnormal eyelid development. Cytogenetic and linkage analyses have previously implicated the chromosome 3q23 region in multiple cases of this syndrome. However, in a few cases cytogenetic analyses have implicated other chromosomal regions in this condition. Here we report linkage of BPES in a large Indian pedigree to chromosome 7p13-p21; affected only two-point and multipoint analyses using D7S488, D7S2551 and D7S2562 both showed peak lod scores of 3.61 coincident with D7S2562. Recombinations in affected individuals placed the critical region between D7S488 and D7S629. When both affected and unaffected individuals were considered, a maximum two-point lod score of 3.38 at θ = 0.08 was obtained with D7S2551 while a peak multipoint lod score of 3.64 was obtained between D7S488 and D7S2551. Segregation analysis revealed two unaffected individuals carrying the affected haplotype accounted for the difference in peak, relative to the affected only analysis. The chromosome 7p candidate genes inhibin beta A and epidermal growth factor receptor map outside this region whereas the HOX1 gene cluster may map inside this region. Although BPES is sometimes associated with female infertility due to premature ovarian failure, in the current family affected females were fertile. The current finding together with the previous evidence implicating chromosome 3q2 provides strong evidence that BPES involves locus heterogeneity; this point should be considered when counselling affected families. © 1993 Oxford University Press Maw Marion Biochemistry Department, University of Otago, Dunedin, New Zealand aut Kar Bibhas Department of Genetics and Molecular Biology, Madras, India aut Biswas Jyotirmay Department of Pathology, Madras, India aut Biswas Partha Department of Pathology, Madras, India aut Nancarrow Derek Clinica Studies Unit, Wolston Park Hospital, Brisbane, Australia aut Bridges Robyn Biochemistry Department, University of Otago, Dunedin, New Zealand aut Kumaramanickavel Govindasamy Biochemistry Department, University of Otago, Dunedin, New Zealand aut Denton Michael Biochemistry Department, University of Otago, Dunedin, New Zealand aut Badrinath S. S. Medical and Vision Research Foundation, Madras, India aut Human Molecular Genetics Oxford University Press 5/12(1996-12), 2049-2054 0964-6906 5:12<2049 1996 5 hmg https://doi.org/10.1093/hmg/5.12.2049 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.12.2049 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Maw Marion Biochemistry Department, University of Otago, Dunedin, New Zealand aut NATIONALLICENCE 700 1- Kar Bibhas Department of Genetics and Molecular Biology, Madras, India aut NATIONALLICENCE 700 1- Biswas Jyotirmay Department of Pathology, Madras, India aut NATIONALLICENCE 700 1- Biswas Partha Department of Pathology, Madras, India aut NATIONALLICENCE 700 1- Nancarrow Derek Clinica Studies Unit, Wolston Park Hospital, Brisbane, Australia aut NATIONALLICENCE 700 1- Bridges Robyn Biochemistry Department, University of Otago, Dunedin, New Zealand aut NATIONALLICENCE 700 1- Kumaramanickavel Govindasamy Biochemistry Department, University of Otago, Dunedin, New Zealand aut NATIONALLICENCE 700 1- Denton Michael Biochemistry Department, University of Otago, Dunedin, New Zealand aut NATIONALLICENCE 700 1- Badrinath S. S. Medical and Vision Research Foundation, Madras, India aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/12(1996-12), 2049-2054 0964-6906 5:12<2049 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford