Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy

Zhaoxia Ren, Pei Yu Lin, Gordon K. Klinworth, Fumino Iwata, Francis L. Munier, Daniel F. Schorderet, Leila El Matri, Veena Theendakara, Surendra Basti, Madhukar Reddy, J. Fielding Hejtmancik*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

47 Scopus citations

Abstract

Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive disease characterized by the deposition of amyloid beneath the corneal epithelium and by severely impaired visual acuity leading to blindness. Although gelatinous corenal dystrophy has previously been mapped to chromosome 1p and seems to be associated with mutations in the M1S1 gene, molecular genetic studies have been limited to Japanese patients. To investigate the cause of GDLD in patients with diverse ethnic backgrounds, we performed linkage analyses in eight unrelated GDLD families from India, USA, Europe, and Tunisa. In seven of these families, the disease locus mapped to a 16-cM interval on the short arm of chromosome 1 between markers D1S519 and D1S2835, a region including the M1S1 gene. In addition, a 1.2-kb fragment containing the entire coding region of M1S1 gene was sequenced in affected individuals. Seven novel mutations (M1R, 8-bp ins., Q118 E, V194 E, C119 S, 870delC, and 1117delA) were identified in six families and two unrelated individuals. No sequence abnormalities were detected in a single family in which the GDLD locus was also excluded from the M1S1 region by linkage analysis. These findings demonstrate allelic and locus heterogeneity for GDLD.

Original languageEnglish (US)
Pages (from-to)568-577
Number of pages10
JournalHuman Genetics
Volume110
Issue number6
DOIs
StatePublished - Jun 2002

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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