A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate-Reference-Cited by-同舟云学术

A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate

Published:2017-05-18 Issue:9 Volume:62 Page:861-863
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Kato Koji,Miya Fuyuki,Hori Ikumi,Ieda Daisuke,Ohashi Kei,Negishi Yutaka,Hattori Ayako,Okamoto Nobuhiko,Kato Mitsuhiro,Tsunoda Tatsuhiko,Yamasaki Mami,Kanemura Yonehiro,Kosaki Kenjiro,Saitoh Shinji^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/jhg201753.pdf

Reference11 articles.

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2. Guerrini, R. & Dobyns, W. B. Malformations of cortical development: clinical and genetic causes. Lancet Neurol. 13, 710–726 (2014).

3. Mirzaa, G. M., Conti, V., Timms, A. E., Smyser, C. D., Ahmed, S., Carter, M. et al. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: next-generation sequencing study. Lancet Neurol. 14, 1182–1195 (2015).

4. Jansen, L. A., Mirzaa, G. M., Ishak, G. E., O’Roak, B. J., Hiatt, J. B., Roden, W. H. et al. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain 138, 1613–1628 (2015).

5. Briox, L., Jagline, H., Ivanova, L., Schmucker, S., Drouot, N., Clayton-Smith, J. et al. Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. Nat. Genet. 48, 1349–1358 (2016).

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2. Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary;Molecular Genetics & Genomic Medicine;2023-03-19

3. Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes;The American Journal of Human Genetics;2023-01

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