MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features

Nishitha R. Pillai, Dana Miller, Grace Bronken, Amrita Kahlon Salunke, Anjali Aggarwal

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Hardikar syndrome (HS) is a MED12-related ultra-rare multiple congenital malformation syndrome known to affect the gastrointestinal, cardiac, and genitourinary systems among other features including cleft lip/palate and pigmentary retinopathy. Only 10 patients affected with HS have been previously described in literature, of which seven were molecularly confirmed. We report a 20-year-old and a 13-month-old patient with HS diagnosed by exome sequencing bringing the total number of clinically diagnosed cases to 12 and MED12 associated to 9. We describe previously unreported molecular and clinical findings associated with HS and review all reported cases to permit prompt diagnosis, appropriate management, and genetic counseling of HS patients.

Original languageEnglish (US)
Pages (from-to)2231-2236
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume188
Issue number7
DOIs
StatePublished - Jul 2022

Bibliographical note

Publisher Copyright:
© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.

Keywords

  • Hardikar syndrome
  • MED12
  • X inactivation
  • aneurysm
  • cholangiocarcinoma

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