Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant.
Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed, starting from raw sequencing files, followed by genome-wide variant calling and new data interpretation. This strategy led to the identification of a disease-causing de novo missense variant in TUBB3 in a girl with severe developmental delay, secondary microcephaly, brain imaging abnormalities, high hypermetropia, strabismus and short stature. Interestingly, the TUBB3 variant could only be identified through reanalysis of ES data using a genome-wi…
Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional Study
<b><i>Background:</i></b> Only few data on dietary management of adult phenylketonuria (PKU) patients are published. <b><i>Objectives:</i></b> This study aimed to assess living situation, dietary practices, and health conditions of early-treated adult PKU patients. <b><i>Methods:</i></b> A total of 183 early-treated PKU patients ≥18 years from 8 German metabolic centers received access to an online survey, containing 91 questions on sociodemographic data, dietary habits, and health conditions. <b><i>Results:</i></b> 144/183 patients (66% females) completed the questionnaire. Compared with German …