Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss

P. J. Francis, S. Johnson, Lorna (Beth) Edmunds, R. E. Kelsell, E. Sheridan, C. Garrett, G. E. Holder, D. M. Hunt, A. T. Moore

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Aim: To characterise the phenotype and identify the underlying genetic defect in a family with deafness segregating with a North Carolina-like macular dystrophy (NCMD). Methods: Details of the family were obtained fram the Moorfields Eye Hospital genetic clinic database and comprised eight affected, four unaffected members, and two spouses. Pedigree data were collated and leucocyte DNA extracted fram venous blood. Positional candidate gene and genetic linkage strategies utilising polymerase chain reaction (PCR) based microsatellite marker genotyping were performed to identify the disease locus. Results: The non-progressive ocular phenotype shared similarities with North Carolina macular dystrophy. Electro-oculography and full field electroretinography were normal. Progressive sensorineural deafness was also present in all affected individuals over the age of 20 years. Hearing was normal in all unaffected relatives. Haplotype analysis indicated that this family is unrelated to previously reported families with NCMD. Genotyping excluded linkage to the MCDR1 locus and suggested a potential novel disease locus on chromosome 14q (Z=2.92 at θ=0 for marker D14S261). Conclusion: The combination of anomalies segregating in this family represents a novel phenotype. This molecular analysis indicates the disease is genetically distinct from NCMD.

Original languageEnglish (US)
Pages (from-to)893-898
Number of pages6
JournalBritish Journal of Ophthalmology
Volume87
Issue number7
DOIs
StatePublished - Jul 1 2003
Externally publishedYes

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Genetic Linkage
Sensorineural Hearing Loss
Deafness
Phenotype
Genetic Databases
Electroretinography
Pedigree
Spouses
Microsatellite Repeats
Haplotypes
Hearing
Macular dystrophy, retinal, 1, North Carolina type
Leukocytes
Chromosomes
Polymerase Chain Reaction
DNA
Genes

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss. / Francis, P. J.; Johnson, S.; Edmunds, Lorna (Beth); Kelsell, R. E.; Sheridan, E.; Garrett, C.; Holder, G. E.; Hunt, D. M.; Moore, A. T.

In: British Journal of Ophthalmology, Vol. 87, No. 7, 01.07.2003, p. 893-898.

Research output: Contribution to journalArticle

Francis, P. J. ; Johnson, S. ; Edmunds, Lorna (Beth) ; Kelsell, R. E. ; Sheridan, E. ; Garrett, C. ; Holder, G. E. ; Hunt, D. M. ; Moore, A. T. / Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss. In: British Journal of Ophthalmology. 2003 ; Vol. 87, No. 7. pp. 893-898.
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