Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).

TitleClinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).
Publication TypeJournal Article
Year of Publication2021
AuthorsMubungu, G, Makay, P, Boujemla, B, Yanda, S, Posey, JE, Lupski, JR, Bours, V, Lukusa, P, Devriendt, K, Lumaka, A
JournalAm J Med Genet A
Date Published2021 Mar
KeywordsAbnormalities, Multiple, Agenesis of Corpus Callosum, Attention Deficit Disorder with Hyperactivity, Child, Democratic Republic of the Congo, Developmental Disabilities, DNA-Binding Proteins, Exome Sequencing, Face, Frameshift Mutation, Humans, Intellectual Disability, Language Development Disorders, Male, Mitral Valve Insufficiency, Palate, Syndrome, Talipes Cavus

Xia-Gibbs syndrome (XGS) is a very rare genetic condition. The clinical spectrum is very broad and variable. The phenotype and evolution in a Congolese boy with XGS have been reported. At 6 years he had speech delay, drooling, marked hyperactivity, attention deficit, aggressive behavior, and intellectual disability. Dysmorphological evaluation revealed strabismus, mild unilateral ptosis, uplifted ear lobes, flat philtrum, thin upper lip vermillion, high arched palate, and flat feet. Patient-only whole exome sequencing identified a known pathogenic frameshift variant in the AHDC1 gene [NM_001029882.3(AHDC1):c.1122dupC;(p.Gly375ArgfsTer3)]. The clinical follow-up revealed the deterioration of his fine motor skills and significant cerebellar phenotype including tremor, pes cavus, and gait instability at the age of 12 years. This patient was compared with three previously reported patients with the same variant but did not identify a consistent pattern in the evolution of symptoms with age.

Alternate JournalAm J Med Genet A
PubMed ID33372375
PubMed Central IDPMC9235023
Grant ListK08 HG008986 / HG / NHGRI NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States

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