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Pedigree analysis of the index patient with proetinuria and VUR.

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posted on 10.10.2013, 07:44 by Rajshekhar Chatterjee, Mary Hoffman, Paul Cliften, Surya Seshan, Helen Liapis, Sanjay Jain

(A) Pedigree of the family of the index patient (1184405, arrow) shows presence of Col4A3_T/C_L1474P variant in one unaffected brother (4302442) and nephew (4302444), but absent in the unaffected sister (4302445) and niece (4302443); while the other damaging variant Col4A3_G/A_G695R is present only in the patient. The SALL2 deleterious mutation SALL2_G/C_G792R is present in the patient and one unaffected brother (4302442) while the MYH9_C/T_L46F mutation is present in all but one affected family member (4302445). (B) Sanger sequencing analysis confirms the status of the novel COL4A3 mutations Col4A3_G/A_G695R and Col4A3_C/T_L1474P, and the SALL2_G/C_G792R and MYH9_C/T_L46F mutations in the relatives of patient 1184405. The Col4A3_T/C_L1474P heterozygous variant was present in one unaffected brother (4302442) and nephew (4302444), but absent the unaffected sister (4302445) and niece (430443). The mutation Col4A3_G/A_G695R was absent in all other family members. The SALL2_G/C_G792R mutation was present only in the unaffected brother 4302442 while the MYH9_C/T_L46F mutation was more common and was present in everyone except the unaffected sister 4302445.