Automated parameter extraction of ScAlN MEMS devices using an extended Euler-Bernoulli beam theory

Magnetoelectric sensors provide the ability to measure magnetic fields down to the pico tesla range and are currently the subject of intense research. Such sensors usually combine a piezoelectric and a magnetostrictive material, so that magnetically induced stresses can be measured electrically. Scandium aluminium nitride gained a lot of attraction in the last few years due to its enhanced piezoelectric properties. Its usage as resonantly driven microelectromechanical system (MEMS) in such sensors is accompanied by a manifold of influences from crystal growth leading to impacts on the electrical and mechanical parameters. Usual investigations via nanoindentation allow a fast determination of mechanical properties with the disadvantage of lacking the access to the anisotropy of specific properties. Such anisotropy effects are investigated in this work in terms of the Young’s modulus and the strain on basis of a MEMS structures through a newly developed fully automated procedure of eigenfrequency fitting based on a new non-Lorentzian fit function and subsequent analysis using an extended Euler–Bernoulli theory. The introduced procedure is able to increase the resolution of the derived parameters compared to the common nanoindentation technique and hence allows detailed investigations of the behavior of magnetoelectric sensors, especially of the magnetic field dependent Young‘s modulus of the magnetostrictive layer

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain

Biallelic PNKP variants cause heterogeneous disorders ranging from neurodevelopmental disorder with microcephaly/seizures to adult-onset Charcot-Marie-Tooth disease. To date, only postnatal descriptions exist. We present the first prenatal diagnosis of PNKP-related primary microcephaly. Pathological examination of a male fetus in the 18th gestational week revealed micrencephaly with extracerebral malformations and thus presumed syndromic microcephaly. A recessive disorder was suspected because of previous pregnancy termination for similar abnormalities. Prenatal trio-exome sequencing identified compound heterozygosity for the PNKP variants c.498G>A, p.[(=),0?] and c.302C>T, p.(Pro101Leu). Segregation confirmed both variants in the sister fetus. Through RNA analyses, we characterized exon 4 skipping affecting the PNKP forkhead-associated (FHA) and phosphatase domains (p.Leu67_Lys166del) as the predominant effect of the paternal c.498G>A variant. We retrospectively investigated two unrelated individuals diagnosed with biallelic PNKP-variants to compare prenatal/postnatal phenotypes. Both carry the splice donor variant c.1029+2T>C in trans with a variant in the FHA domain (c.311T>C, p.(Leu104Pro); c.151G>C, p.(Val51Leu)). RNA-seq showed complex splicing for c.1029+2T>C and c.151G>C. Structural modeling revealed significant clustering of missense variants in the FHA domain with variants generating structural damage. Our clinical description extends the PNKP-continuum to the prenatal stage. Investigating possible PNKP-variant effects using RNA and structural modeling, we highlight the mutational complexity and exemplify a PNKP-variant characterization framework