Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients

Devon Haynes, Lynda Pollack, Chitra Prasad, Sharan Goobie, Samantha Colaiacovo, Tara Wolfinger, Yves Lacassie

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)

Abstract

Basel-Vanagaite-Smirin-Yosef syndrome is a recently described autosomal recessive intellectual disability syndrome caused by variants in the MED25 gene. While it was originally identified in Brazil, it was further described in Israel by authors who are now the namesake of the condition. A 2018 publication further contributed to its delineation, but the patient's phenotype was complicated by a dual diagnosis. More recently, an article describing a set of affected siblings was published. We describe three, previously unreported, patients showing clinical variability for this newly defined syndrome. The major features determined by “reverse phenotyping” include significant to profound developmental delays/intellectual disability with absent or delayed speech, epilepsy, ocular abnormalities, cleft lip and/or palate, congenital heart disease, urogenital anomalies, skeletal abnormalities, brain malformations and/or microcephaly, failure to thrive, and dysmorphic features. The authors suggest the delineation of an acronym using the gene name and common features seen across the majority of patients reported so far. This new nomination, MED-DOCS, may help clinicians to recognize, suspect, and remember this novel syndrome.

Original languageEnglish
Pages (from-to)1785-1790
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume182
Issue number7
DOIs
Publication statusPublished - Jul 1 2020
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2020 Wiley Periodicals, Inc.

ASJC Scopus Subject Areas

  • Genetics
  • Genetics(clinical)

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