Meckel syndrome: Clinical and mutation profile in six fetuses

Periyasamy Radhakrishnan, Shalini S. Nayak, Anju Shukla, Anna Lindstrand, Katta M. Girisha

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Meckel syndrome (MKS) is a perinatally lethal, genetically heterogeneous, autosomal recessive condition caused by defective primary cilium formation leading to polydactyly, multiple cysts in kidneys and malformations of nervous system. We performed exome sequencing in six fetuses from six unrelated families with MKS. We identified seven novel variants in B9D2, TNXDC15, CC2D2A, CEP290 and TMEM67. We describe the second family with MKS due to a homozygous variant in B9D2 and fifth family with bi-allelic variant in TXNDC15. Our data validates the causation of MKS by pathogenic variation in B9D2 and TXNDC15 and also adds novel variants in CC2D2A, CEP290 and TMEM67 to the literature.

Original languageEnglish
JournalClinical Genetics
DOIs
Publication statusPublished - 01-12-2019

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Meckel syndrome: Clinical and mutation profile in six fetuses'. Together they form a unique fingerprint.

  • Cite this