Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.

ABSTRACT:

Introduction

CREBBP truncating mutations and deletions are responsible for the well-known Rubinstein-Taybi syndrome. Recently, a new, distinct CREBBP-linked syndrome has been described: missense mutations located at the 3' end of exon 30 and the 5' portion of exon 31 induce Menke-Hennekam syndrome. Patients with this syndrome present a recognizable facial dysmorphism, intellectual disability of variable severity, microcephaly, short stature, autism, epilepsy, visual and hearing impairments, feeding problems, upper airway infections, scoliosis, and/or kyphosis. To date, all diagnoses were made postnatally.

Method and case report

Trio-whole exome sequencing (WES) was performed in a fetus showing increased nuchal translucency persistence and aorta abnormalities at 28 weeks of g

SUBMITTER: Cogan G 

PROVIDER: S-EPMC10496051 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature