Article
A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.
Annals of human genetics - 1 Sept 2022
Yadav Navneesh, Kirola Laxmi, Geetha Thenral S, Mittal Kirti, Kadandale Jayarama, Yogev Yuval, Birk Ohad S, Gupta Neerja, Balakrishnan Prahlad, Jana Manisha, Gupta Meena, Kabra Madhulika, Thelma Bittianda Kuttapa
Abstract excerpt
Primary microcephaly and Seckel syndrome are rare genetically and clinically heterogenous brain development disorders. Several exonic/splicing mutations are reported for these disorders to date, but ∼40% of all cases remain unexplained. We aimed to uncover the genetic correlate(s) in a family of multiple siblings with microcephaly. A novel homozygous intronic variant (NC_000013.10:g.25459823T>C) in CENPJ (13q12)...
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