First reported case in Panama of Baraitser Winter Syndrome

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DOI:

https://doi.org/10.37980/im.journal.rspp.20242225

Keywords:

Rare disease, intellectual disability, Baraitser Winter Syndrome

Abstract

The Baraitser-Winter cerebral-front-facial syndrome (BWCFF) is caused by heterozygous nonsense mutations in one of the two ubiquitous genes encoding cytoplasmic actin, either ACTB or ACTG1. The syndrome combines facial and cerebral malformations. Among the facial malformations that can be observed are iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, and prominent epicanthic folds. The cerebral malformations include pachygyria, subcortical band heterotopia, and anomalies of the corpus callosum.

We present the case of an 11-year-old girl who had some distinctive facial features, as well as cerebral malformations, short stature, moderate cognitive disability, and speech and language delay. Targeted clinical exome sequencing identified a heterozygous de novo nonsense variant in ACTB: c.617G>A (p. Arg206Gln).

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Published

2024-04-30

Issue

AÑO 2024 VOLUMEN 53 NÚMERO 1

Section

Case reports

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Copyright (c) 2024 Infomedic Intl.

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