TY - JOUR
T1 - Xia-Gibbs syndrome in adulthood
T2 - A case report with insight into the natural history of the condition
AU - Murdock, David R.
AU - Jiang, Yunyun
AU - Wangler, Michael
AU - Khayat, Michael M.
AU - Sabo, Aniko
AU - Juusola, Jane
AU - McWalter, Kirsty
AU - Schatz, Krista Sondergaard
AU - Gunay-Aygun, Meral
AU - Gibbs, Richard A.
N1 - Funding Information:
This work was supported by the Baylor-Hopkins Center for Mendelian Genomics (HG006542) and by a private donation. R.A.G. was also supported as a visiting scholar of the Texas Institute for Advanced Studies.
Publisher Copyright:
© 2019 Murdock et al. This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License, which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.
PY - 2019
Y1 - 2019
N2 - A 55-yr-old male with severe intellectual disability, behavioral problems, kyphoscoliosis, and dysmorphic features was referred for a genetic evaluation. Chromosomal microarray, RASopathy gene panel, mitochondrial sequencing, and fragile X testing were all negative. Subsequent whole-exome sequencing revealed a heterozygous, truncating variant in the AHDC1 gene, consistent with a diagnosis of Xia-Gibbs syndrome (XGS). Review of his clinical history showed many classic dysmorphic and clinical features of XGS, but no major health issues in adulthood other than intellectual disability. This individual is the oldest published XGS case to date, demonstrates the wide phenotypic spectrum of the disorder, and provides information on the condition's natural history. As more adults undergo genomic studies, we will continue to learn about the adult phenotypes of genetic conditions typically diagnosed in the pediatric setting.
AB - A 55-yr-old male with severe intellectual disability, behavioral problems, kyphoscoliosis, and dysmorphic features was referred for a genetic evaluation. Chromosomal microarray, RASopathy gene panel, mitochondrial sequencing, and fragile X testing were all negative. Subsequent whole-exome sequencing revealed a heterozygous, truncating variant in the AHDC1 gene, consistent with a diagnosis of Xia-Gibbs syndrome (XGS). Review of his clinical history showed many classic dysmorphic and clinical features of XGS, but no major health issues in adulthood other than intellectual disability. This individual is the oldest published XGS case to date, demonstrates the wide phenotypic spectrum of the disorder, and provides information on the condition's natural history. As more adults undergo genomic studies, we will continue to learn about the adult phenotypes of genetic conditions typically diagnosed in the pediatric setting.
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U2 - 10.1101/mcs.a003608
DO - 10.1101/mcs.a003608
M3 - Review article
C2 - 30622101
AN - SCOPUS:85067209601
SN - 2373-2873
VL - 5
JO - Cold Spring Harbor Molecular Case Studies
JF - Cold Spring Harbor Molecular Case Studies
IS - 3
M1 - a003608
ER -