Case Report: Preconception Genetic Counseling to Consanguineous Parents of a Deceased Child Suspected of Having Infectious Disease

Introduction: Consanguinity, marriage between two related-individuals as second cousins or closer, is a respected tradition in Iran, but offspring are at inherited genetic diseases increased risk. However, little is known about genetic counseling for this indication, or their perspectives on genetic screening relevant to family planning, such as NGS-Parents-Exome.Case report: An apparently healthy parents presented with ۵th degree consanguineous marriage and a history of deceased child, was referred for genetic counseling. He manifested with infectious disease at birth, muscle spasms, generalised tonic-clonic seizure, lung diseseas, hematochezia and cyanosis who died at age ۱۹ days. Parents had positive family history of severe obesity, vision problem, polydactyly and ID, suggestive for BBS, hearing impairment, stuttering, abnormal gait, joint abnormality, and kyphosis. The mother had an affected ۸-year old son diagnosed with developmental delay, no speech and autism, from her previous marriage with her cousin. They wanted to get pregnant, but they were worried about their child's health, both because of consanguineous marriages and because of the problems of their deceased child and the mother’s affected son. Homozygote likely pathogenic variant ch۱۹, c.۸۲dupG was identified in the Whole exome sequencing (WES) analysis of the son with autism, compatible with AR inherited Cerebral creatine deficiency syndrome ۲. The mother was heterozygote, but fortunately her current husband was wild-type homozygote for this mutation. In the Paired WES test, the couple jointly had two heterozygous VUS variants in genes LIFR and SPG۷ with AR inheritance, none of them were reported in the medical literature.

کلیدواژه ها:

consanguineous marriage ، genetic counseling ، Whole exome sequencing