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The BCAP31 gene is located between SLC6A8, associated with X‐linked creatine transporter deficiency, and ABCD1, associated with X‐linked adrenoleukodystrophy. Recently, loss‐of‐function mutations in BCAP31 were reported in association with severe developmental delay, deafness and dystonia. We characterized the break points in eight patients with deletions of SLC6A8, BCAP31 and/or ABCD1 and studied...
Eukaryotic elongation factor 1, alpha‐2 (eEF1A2) protein is involved in protein synthesis, suppression of apoptosis, and regulation of actin function and cytoskeletal structure. EEF1A2 gene is highly expressed in the central nervous system and Eef1a2 knockout mice show the neuronal degeneration. Until now, only one missense mutation (c.208G > A, p.Gly70Ser) in EEF1A2 has been reported in two independent...
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