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Y. S. Shin-Buehring, L. Stuempfig, E. Pouget, P. Rahm, J. Schaub, "Characterization of galactose-1-phosphate uridyl-transferase and galactokinase in human organs from the fetus and adult", Clin Chim Acta, Vol. 112, No. 3, 1981, pp. 257-65.

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• TITLE: Investigation of Four Genes Responsible for Autosomal Recessive Congenital Cataract and Highly Expressed in the Brain in Four Unrelated Tunisian Families

  AUTHORS: Manèl Chograni, Myriam Chaabouni, Faouzi Maazoul, Habiba Chaabouni Bouhamed

  KEYWORDS: Congenital Cataract; Mental Retardation; Microcephaly; Autosomal Recessive; Association; Linkage Study

  JOURNAL NAME: Open Journal of Ophthalmology, Vol.2 No.3, August 24, 2012

  ABSTRACT: Purpose: To identify the causative gene for phenotypes associating autosomal recessive congenital cataract, mental retardation and congenital cataract, mental retardation and microcephaly in four unrelated Tunisian families. Methods: Four genes (EPHA2, GALK1, GCNT2, and CRYBB1) were selected based on expression in human brain and their known or putative function. Linkage analyses were performed for the four genes in multiple affected and unaffected families’ members and results were explored by the GeneMapper ID v3.2 software. Results: No linkage was identified for the four studied genes in the four families. Affected members of each family did not share common haplotypes in corresponding candidate regions containing selected gene. Conclusion: Although the four studied genes were reported responsible for autosomal recessive congenital cataract and highly expressed in the human brain, we report no linkage for EPHA2, GALK1, GCNT2, and CRYBB1 genes in four families with congenital cataract, mental retardation and congenital cataract, mental retardation and microcephaly.