Elbracht, Miriam and Kraft, Florian and Begemann, Matthias and Holschbach, Petra and Mull, Michael and Kabat, Ildiko M. and Mueller, Britta and Haeusler, Martin and Kurth, Ingo and Hehr, Ute (2018) Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. MOLECULAR GENETICS & GENOMIC MEDICINE, 6 (6). pp. 1255-1260. ISSN 2324-9269,
Full text not available from this repository. (Request a copy)Abstract
Background Mutations in the HECT domain of NEDD4L have recently been identified in a cohort of eight patients with a syndromic form of bilateral periventricular nodular heterotopia (PVNH) in association with neurodevelopmental delay, cleft palate, and toe syndactyly (PVNH7). Methods Case report based on NGS sequencing. Results Here, we describe a girl with a novel heterozygous NEDD4L missense variant, p.Tyr679His, and characteristic clinical findings, including bilateral periventricular nodular heterotopia, cleft palate and mild toe syndactyly. Molecular testing from peripheral blood identified the healthy father to carry the NEDD4L variant in mosaic state. Notably, a previous pregnancy of the couple had been terminated due to a complex fetal developmental disorder, including hypokinesia and flexion contractures. Upon review, this affected fetus was also shown to carry the familial NEDD4L variant. Conclusion Our findings may suggest a broader spectrum of NEDD4L-associated phenotypes, including severe prenatal neurodevelopmental manifestations, which might represent yet another genetic form of fetal hypokinesia with flexion contractures.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | HECT DOMAIN; arthrogryposis; fetal hypokinesia; nanopore sequencing; NEDD4L; periventricular nodular heterotopias |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 10 Oct 2019 07:15 |
| Last Modified: | 10 Oct 2019 07:15 |
| URI: | https://pred.uni-regensburg.de/id/eprint/13571 |
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