CMMRD caused by PMS1 mutation in a sudanese consanguineous family

Reem S Hamad; Muntaser E Ibrahim

doi:10.1186/s13053-022-00222-4

CMMRD caused by PMS1 mutation in a sudanese consanguineous family

Hered Cancer Clin Pract. 2022 Apr 15;20(1):16. doi: 10.1186/s13053-022-00222-4.

Authors

Reem S Hamad¹, Muntaser E Ibrahim²

Affiliations

¹ Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.
² Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan. mibrahim@iend.org.

Abstract

A consanguineous family of three siblings presented with different early onset pediatric cancers. Whole-exome sequencing of parents DNA revealed a deleterious frameshift mutation in hPMS1 the first to be reported in association to a CMMRD phenotype.

Keywords: CMMRD; Cancer; Consanguinity; PMS1.

Publication types

Letter