Prenatal diagnosis of intellectual disability, autosomal dominant 29 with a nonsense pathogenic variant in <i>SETBP1</i>: a case report and literature review.

ABSTRACT:

Introduction

Intellectual disability, autosomal dominant 29 is a rare disorder resulting from pathogenic variants of SETBP1 gene with no specific mutation hotspot identified. Systematic descriptions of new cases are crucial for understanding the genotypic and phenotypic spectrums of the disease.

Case presentation

A pregnant woman was referred to the prenatal diagnosis center at our hospital because she has an intellectual disability and has previously given birth to a child with intellectual disabilities. Karyotype, CNV-seq and whole-exome sequencing (WES) were employed to investigate the potential genetic issues in the family. The SETBP1 NM_015559.2: c.2425C>T (p.Gln809*) nonsense variant was found in the proband and mother, who were diagnosed with MRD29. Amni

SUBMITTER: Wei Z 

PROVIDER: S-EPMC11936921 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature