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Pedigree with adCSNB and PDE6B mutation.

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posted on 23.04.2014, 15:35 by Gaël Manes, Pallavi Cheguru, Anurima Majumder, Béatrice Bocquet, Audrey Sénéchal, Nikolai O. Artemyev, Christian P. Hamel, Philippe Brabet

A. The three-generation French family MTP1481 with adCSNB. Filled symbols indicate affected family members; squares: males; circles: females; arrow: index patient; slashed symbols: deceased persons; question marks: family members with no information about the phenotype available. M indicates the presence of the mutation and + indicate the wild-type allele. B. Electropherograms show the normal control sequence and affected sequence (index individual III:1) surrounding the p.Tyr314Cysfs*50 mutation. The dotted line represents the 22 duplicated nucleotides. C. Schematic representation of the PDE6β protein showing the domain structure and positions of arRP truncating mutations (below) and adCSNB mutations (above) including the mutation described in this study (Y314Cfs*50).