Pediatrics & Neonatal Biology Open Access (PNBOA)
ISSN: 2640-2726
Case Report
Xia-Gibbs Syndrome- A Case Report
Abstract
Background: Xia-Gibbs syndrome a phenotypically heterogeneous genetic neurodevelopmental disorder (NDD) characterized by intellectual impairment with absent poor expressive language, global developmental delay, hypotonia, feeding problems, distinctive mild dysmorphic facial features, is caused by newly arising mutations (including some missense variants) in the AHDC1 gene.
Case Presentation: A 10-month-old female child presented with complaints of fever in the past 7 days, respiratory distress for 4 days, failure to thrive, hypotonia, delayed motor milestones, dysmorphic features and global developmental delay. Whole Genome Sequencing revealed AHDCI chr1:27878230G>A-the missense variant NM_001029882.3 (AHDC1):c397C>T (p.Arg133Cys) and phenotype consistent with Xia Gibbs Syndrome.
Conclusions: possible pathogenicity of newly observed missense variants/missense changes outside the clusters in AHDC1 in individuals with XGS-like phenotypes can be established with an improved understanding of AHDC1 structure and function.
Keywords: Xia Gibbs Syndrome; AHDC1; Missense Variant NM_001029882.3; Hypotonia; Delayed Motor Milestones; Dysmorphic Features; Global Developmental Delay
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