A further case of AFG2B ‐related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T > C, p.(Leu438Pro)
ConclusionOf note, the change c.1313T>C, p.(Leu438Pro) has been observed in a previously published patient as part of a complex disease allele along with a second homozygous missense change, so the exact contribution of the two alterations to this patient's disease had initially remained unclear. Our results support the pathogenic relevance of the c.1313T>C, p.(Leu438Pro) allele while providing detailed insights into the disease manifestation of a further patient.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Sarah Grosch,
Martin Kehrer,
Olaf Riess,
Andrea Bevot,
Tobias B. Haack Tags: CLINICAL REPORT Source Type: research