Xia-Gibbs syndrome in adulthood: A case report with insight into the natural history of the condition

David R. Murdock, Yunyun Jiang, Michael Wangler, Michael M. Khayat, Aniko Sabo, Jane Juusola, Kirsty McWalter, Krista Sondergaard Schatz, Meral Gunay-Aygun, Richard A. Gibbs

Research output: Contribution to journalReview articlepeer-review

Abstract

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.

Original languageEnglish (US)
Article numbera003608
JournalCold Spring Harbor Molecular Case Studies
Volume5
Issue number3
DOIs
StatePublished - 2019

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Genetics
  • Genetics(clinical)

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