Expanding the phenotypic spectrum of ARCN1-related syndrome.

ABSTRACT:

Purpose

This study aimed to describe the phenotypic and molecular characteristics of ARCN1-related syndrome.

Methods

Patients with ARCN1 variants were identified, and clinician researchers were connected using GeneMatcher and physician referrals. Clinical histories were collected from each patient.

Results

In total, we identified 14 cases of ARCN1-related syndrome, (9 pediatrics, and 5 fetal cases from 3 families). The clinical features these newly identified cases were compared to 6 previously reported cases for a total of 20 cases. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%),

SUBMITTER: Ritter AL 

PROVIDER: S-EPMC9923403 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature