Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital

American Journal of Medical Genetics. Part a
Alyssa L RitterKosuke Izumi

Abstract

Xia-Gibbs syndrome (XGS) is a recently described neurodevelopmental disorder due to heterozygous loss-of-function AHDC1 mutations. XGS is characterized by global developmental delay, intellectual disability, hypotonia, and sleep abnormalities. Here we report the clinical phenotype of five of six individuals with XGS identified prospectively at the Children's Hospital of Philadelphia, a tertiary children's hospital in the USA. Although all five patients demonstrated common clinical features characterized by developmental delay and characteristic facial features, each of our patients showed unique clinical manifestations. Patient one had craniosynostosis; patient two had sensorineural hearing loss and bicuspid aortic valve; patient three had cutis aplasia; patient four had soft, loose skin; and patient five had a lipoma. Differential diagnoses considered for each patient were quite broad, and included craniosynostosis syndromes, connective tissue disorders, and mitochondrial disorders. Exome sequencing identified a heterozygous, de novo AHDC1 loss-of-function mutation in four of five patients; the remaining patient has a 357kb interstitial deletion of 1p36.11p35.3 including AHDC1. Although it remains unknown whether these unique ...Continue Reading

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Apr 27, 2018·American Journal of Medical Genetics. Part a·Yunyun JiangRichard A Gibbs

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Citations

Jan 10, 2019·Cold Spring Harbor Molecular Case Studies·David R MurdockRichard A Gibbs
Apr 8, 2020·Molecular Syndromology·Augusto C Cardoso-Dos-SantosFabiano de Oliveira Poswar
Jan 20, 2021·Pediatric Dermatology·Carter EllisLara Wine Lee
Feb 2, 2021·Curēus·Chanan GoyalAshish S Aujla
Jul 7, 2021·European Journal of Medical Genetics·Soren L FaergemanPernille A Gregersen

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