Analysis of SALL1 gene variant in a boy with Townes-Brocks syndrome without anal atresia / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child presented with renal failure and multi-cystic dysplastic kidney without anal atresia.@*METHODS@#Peripheral blood sample of the child and his parents were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.@*RESULTS@#The 40-day-old infant had presented with vomiting brown matter in a 7 days neonate and was transferred for kidney failure. Clinical examination has discovered renal failure, polycystic renal dysplasia, congenital hypothyroidism, bilateral thumb polydactyly, sensorineural hearing loss and preauricular dermatophyte. Genetic testing revealed that he has harbored a previously unreported c.824delT, p.L275Yfs*10 frameshift variant of SALL1 gene, which was confirmed by Sanger sequencing as de novo.@*CONCLUSION@#The patient was diagnosed with Townes-Brocks syndrome due to the novel de novo variant of SALL1 gene. Townes-Brocks syndrome without anal atresia is rare. Above finding has also enriched the mutational spectrum of the SALL1 gene.

Diagnosis and treatment of adolescent instability of lower cervical spine / 中国矫形外科杂志

[Objective]To investigate the possible etiological factors,pathogenesis,diagnostic criteria,clinic characteristics and the choice of treatment of the adolescent instability of lower cervical spine.[Method]The diagnosis,therapies and follow-up materials of the two typical cases were analyzed and researched with the available literatures.[Result]The two cases showed dissappearance of syndroms.The Roentgen film showed that the operative segments have gotten bone-fuse.Results were excellent according to Henderson-evaluation classification without any complications at 3 and 4 years follow-up.[Conclusion]The degeneration is probable one of the etiological factors causing adolescent instability of lower cervical spine.It is resemble on the pathogenesis,diagnostic criteria and the choice of treatment between the adolescent and the adult.But the each characteristic on the pathogenesis,pathologic process,clinical situation should be remarked.The growth potentiality and other correlated factors should be paid attention to for the choice of treatment.