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. 2019 Jul;10(4):219-222.
doi: 10.1159/000501114. Epub 2019 Jun 28.

Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation

Pratibha Nair  1 , Sandra Sabbagh  2 , Sami Bizzari  1 , Florian Brunner  3 , Samantha Stora  4 , Mahmoud T Al-Ali  1 , Martin Gencik  3 , Stephany El-Hayek  1 , André Mégarbané  4   5
Affiliations

Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation

Pratibha Nair et al. Mol Syndromol. 2019 Jul.

Abstract

Basel-Vanagaite-Smirin-Yosef syndrome (OMIM 616449) is a rare autosomal recessive genetic disorder characterized by severe developmental delay and variable craniofacial, neurological, cardiac, and ocular anomalies in the presence of variants in the MED25 gene. So far, only a handful of patients have been reported with this condition globally. Here, we report an additional Lebanese family with 2 affected siblings presenting with severely delayed psychomotor and language development as well as craniofacial anomalies. By whole-exome sequencing (WES), a homozygous variant was found in the MED25 gene, c.518T>C, predicted to result in a p.Ile173Thr change in the MED25 protein. This change has recently been reported in another Lebanese family. Review of the literature, the importance of this mutation in the Lebanese population, and the possibility that this condition may be underdiagnosed and only effectively detected using molecular techniques such as WES are discussed.

Keywords: Autosomal recessive disorder; Lebanon; MED25; Mutation.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Fig. 1
Fig. 1
Dysmorphic facial features. a Proband. b Sister. Note the high forehead, sparse scalp hair and eyebrows, flat nasal bridge with a broad nasal tip, hypertelorism, and the short philtrum. c Family pedigree. The arrow denotes the proband.
Fig. 2
Fig. 2
Chromatogram of the proband. Arrow shows the c.518T>C mutation.
See this image and copyright information in PMC

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