Meckel syndrome: Clinical and mutation profile in six fetuses

Radhakrishnan, Periyasamy and Nayak, Shalini S and Shukla, Anju and Girisha, KM (2019) Meckel syndrome: Clinical and mutation profile in six fetuses. Clinical Genetics, 96. pp. 560-565. ISSN 0009-9163

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Meckel syndrome (MKS) is a perinatally lethal, genetically heterogeneous, autosomalrecessive 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

Item Type: Article
Uncontrolled Keywords: B9D2; CC2D2A; CEP290; Cystic kidneys; Holoprosencephaly; Meckel syndrome; Polydactyly; TMEM67; TXNDC15
Subjects: Medicine > KMC Manipal > Medicine
Depositing User: KMC Library
Date Deposited: 14 Sep 2020 10:52
Last Modified: 14 Sep 2020 10:52

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