Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma and other cancers, while germline variants have recently been identified in seven patients with a syndrome associating cardiac, facial and digital anomalies with developmental delay. We aimed to define the clinical and mutational spectrum associated with TRAF7 germline variants through identification and description of 45 new patients, and to determine the effects of the variants at a molecular level through transcriptomic analysis of patient fibroblasts.Methods We performed exome, targeted capture and Sanger sequencing in a series of patients with undiagnosed developmental disorders. Phenotypic and mutational comparisons Powered by Editorial Manager® and ProduXion Manager® from Aries Systems Corporation We hope you will consider our manuscript for publication in Genetics in Medicine and we look forward to hearing your response.
Mucopolysaccharidosis Type IVA (MPS IVA), also known as Morquio A syndrome, is an autosomal recessive lysosomal storage disorder that results from variants in the GALNS gene that encodes the enzyme galactosamine-6-sulfate sulfatase. This syndrome has systemic manifestations including, but not limited to, musculoskeletal, respiratory, cardiovascular, rheumatologic, neurologic, dental, ophthalmologic, and otologic. This condition is usually detected within the first few years of life with an average life expectancy of 25.3 ± 17.43 years. We report the natural history of two of the oldest known females with MPS IVA who were each clinically diagnosed at 4 years of age and who are now 74 and 70 years of age, respectively. They are both affected by pathogenic variants c.319G>A (p.Ala107Thr) and c.824 T>C (p.Leu275Pro) in the GALNS gene.
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