Compound Point Mutation and Chromosomal Microdeletion Involving 1q21.1 Coinciding with ZMIZ1Variant:Newborns with Feeding Difficulties

Abstract

Abstract Feeding Difficulties can be caused by many chromosomal and monogenic diseases，such as ZMIZ1mutation and 1q21.1 Microdeletion. These genetic alterations share similar phenotypic features. Now we present clinical data on a male newborn admitted to the Children’s Hospital of Soochow University who is diagnosed with both a 1q21.1 microdeletion and ZMIZ1 gene mutation, alongside a literature review. The male infant, 27 days old, showed indications of microcephaly, feeding difficulties, and dysmorphic facial features. A de novo heterozygous missense variant (c.2504-2516del，p. Asp835Alafs*10) was identified in the exon 22 of ZMIZ1. Furthermore, a de novo microdeletion variant was identified at chromosome 1q21.1 (chr1:g.146633270-147408820del). This case expands the range of genotypes associated with this complex disorder and represents the first reported co-occurrence of a novel chromosomal microdeletion and a ZMIZ1point mutation.