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Electronical Supplementary DocumentMethods: Genomic DNA was isolated from peripheral blood leukocytes by standard procedures.Whole exome target enrichment was performed with 0.5 µg of genomic DNA from patient 2 and with the Agilent SureSelectHuman All Exon 60 Mb Capture kit (Agilent Technologies, Santa Clara, CA), and 2 x 150 bp paired-end sequences were produced using an Illumina Hi-Seq4000 platform. Variants were identified in genes known to cause forms of congenital diarrheas using the SeattleSeq Annotation server (http://snp.gs.washington.edu/SeattleSeqAnnotation138/), and were filtered for autosomal recessive mode of inheritance, predicted effect on protein expression, and allele frequency of <0.005 in the Exome Aggregation Consortium (http://exac.broadinstitute.org/) database. The identified missense variant was evaluated in silico to estimate pathogenicity by PolyPhen-2 (http://genetics.bwh.harvard.edu/pph2), CADD (http://cadd.gs.washington.edu/score), and MutationTaster (http://www.mutationtaster.org/). A copy-number detection in targeted NGS data was performed using panelcn.MOPS (https://ml.jku.at/software/panelcnmops/). Sanger sequencing was used to determine the segregation of the EPCAM variant detected by exome sequencing. EPCAM variant designations are based on the NCBI reference sequence NM_002354.2.

There is no medical or ethical consensus over the necessity and the ethical statue of nontherapeutic circumcision of boys. From the medical aspect, there are some potential medical benefits like decreased UTI contracture and Human Immunodeficiency Virus (HIV). transmission rates. However, it is an intervention to the child's bodily integrity and has some surgical complications like bleeding, pain, postoperative infection and inadequate skin removal. Complication rates are low when the surgery is done according to medical standards. When considering the ethical aspects of circumcision, the most important question to be asked is 'What is the best interest of the child?' In order to answer this question, all medical, cultural and psychosocial aspects of the circumcision need to be evaluated. It is an important part of sociocultural life especially in Islamic and Jewish societies. Therefore, it is necessary for the child to be integrated to society and to socialize in that environment. Since it is not a fact whether the medical benefits outweigh the risk or vice versa, the right of the parents to raise a child according to their sociocultural and religious beliefs and the right of the child to be a part of the society should not be eliminated.

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