Identification Of Rbbp8 Mutation In Pakistani Families Affected With Jawad Syndrome Emrah Kaygusuz

Among The Group Of Craniodigital Syndromes, Patients With Ja- Wad Syndrome Have A Striking Congenital Microcephaly, Mod- Erate To Severe İntellectual Disability, White Spots On The Skin Of The Hands And Feet, Anonychia Congenita, Polydactyly Of Fm- Gers And Toes And Syndactyly Of The Second And Third Toe (Syn- Polydactyly) Of Variable Degree. Here, I Report Two Further Fam- İlies Of Jawad Syndrome Form Pakistan. I Present The Detailed Clinical Analysis Along With The İdentification Of A Mutation (C.l808-1809Delta, P.ıle603Lysfs*7) İn One Family By Whole-Exome Sequencing. The Same Mutation Was İdentifıed İn The Second Family By Sanger Sequencing. I Propose This As A Founder Mutation Because Both Families Described Here And The Previously Reported One Carried The Same Mutation. Further- More, The Homozygosity Mapping Corroborated My Hypothesis Of The Founder Mutation Based On The İdentification Of The Same Haplotype Shared By Both Unrelated Families.