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. 2018 May;9(3):154-158.
doi: 10.1159/000488815. Epub 2018 Apr 28.

DeSanto-Shinawi Syndrome: First Case in South America

Sara Vanegas  1 , Diana Ramirez-Montaño  1 , Estephania Candelo  1 , Marwan Shinawi  2 , Harry Pachajoa  1   3
Affiliations

DeSanto-Shinawi Syndrome: First Case in South America

Sara Vanegas et al. Mol Syndromol. 2018 May.

Abstract

Pathogenic variants in WAC are uncommon causes of developmental delay and neurobehavioral phenotypes. The clinical features associated with WAC haploinsufficiency include recognizable dysmorphic facial features that were recently delineated as DeSanto-Shinawi syndrome (DESSH; OMIM 616708). Additional clinical features include hypotonia, hearing and vision abnormalities, gastrointestinal problems, and behavioral difficulties. Here, we report a case of a 4-year-old Colombian male patient with typical dysmorphic facial features, developmental delay, hyperactivity, and recurrent respiratory infections. His immune workup revealed hypogammaglobulinemia, and clinical exome sequencing revealed a novel intronic variant in WAC (c.1437+1G>A). To the best of our knowledge, this is the first case of DESSH in South America, underlining the accumulating evidence of the significant role of WAC haploinsufficiency in neurobehavioral phenotypes. Although this report suggested the potential involvement of WAC in immune regulation, additional reports are required to confirm our observations.

Keywords: Dysmorphic facial features; Intellectual disability; WAC.

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Figures

Fig. 1
Fig. 1
Facial features of the 4-year-old proband. Frontal view (a) and lateral view (b) showing facial dysmorphism, coarse facies, broad forehead, synophrys, deep-set eyes, hypertelorism, broad and depressed nasal bridge, epicanthic folds, posteriorly rotated ears, and a wide mouth.
Fig. 2
Fig. 2
Extremities of the patient. a Right hand showing short and thick fingers and fifth finger clinodactyly. b Right foot showing short third to fifth toes.
Fig. 3
Fig. 3
Diagram of WAC and the location of exons 5-14 showing the splicing variant designated as NM_016628.4:c.1437+1G>A in red found in the proband. The window below shows the Sanger sequencing results.
See this image and copyright information in PMC

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