Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To screen for mutations of NTRK1 gene in a Chinese family affected with congenital insensitivity to pain with anhidrosis (CIPA).</p><p><b>METHODS</b>Genomic DNA was extracted from the proband and her family members. All of the 17 exons and intron-exon boundaries of the NTRK1 gene were analyzed by direct Sanger sequencing. For the deletional mutation, the PCR products were subjected to T-A cloning and sequencing to verify the mutation.</p><p><b>RESULTS</b>NTRK1 gene analysis revealed that proband has carried a c.1786C>T (p.Arg596*) nonsense mutation inherited from her mother and a novel deletional mutation c.1928-2028+23del from her father. Her elder brother only carried the deletional mutation.</p><p><b>CONCLUSION</b>The diagnosis of CIPA relied on typical clinical symptoms of no pain, anhidrosis and intellectual disability and detection of the biallelic NTRK1 mutations. The novel deletional mutation has enriched the spectrum of NTRK1 mutations.</p>

Clinical features and OCRL mutation analysis in a case of infant Lowe syndrome / 中国病理生理杂志

[ ABSTRACT ] AIM: To characterize the phenotypic and genetic features of a patient with Lowe syndrome. METHODS:The clinical data and the MRI of a ten-month-old patient were analyzed.At the same time, all exons of the OCRL gene of the patient and his parents were amplified and Sanger-sequenced.RESULTS:Clinical analysis revealed that the patient has abnormal vision, nystagmus, congenital cataract, hypotonia, proteinuria, hematuria and psychomotor retar-dation.MRI showed white matter myelination delay, bilateral frontal and temporal dysplasia, and subarachnoid cavity en-largement.The results of PCR and Sanger sequencing detected a de novo mutation, NM_000276.3: c.1280-1281delTT (p.Cys428Hisfs*2), a deletion causing a frame shift.To our knowledge, this mutation in OCRL gene has not been repor-ted previously.CONCLUSION:The clinical manifestations suggested a phenotype of Lowe syndrome, and molecular ge-netic testing confirmed the diagnosis.The novel de novo mutation enriches the OCRL mutation spectrum.

Applied Value of Diffusion Tensor Imaging in Early Evaluation of Prognosis of Hypoxic-Ischemic Encephalopathy in New Infants / 实用放射学杂志

Objective To study the value of diffusion tensor imaging(DTI) in early assessment of prognosis of hypoxic-ischemicencephalopathy(HIE) in new infants. Methods 96 cases of full term infants with HIE underwent DTI examinations at 0～12 days and 6～36 months. Based on clinical diagnostic criteria, 96 cases were divided into three groups: mild, moderate and severe HIE groups. Fractional anisotropy(FA) values in the corpus callosum splenium and the posterior limb of internal capsules were measured. Results (1) Varying degrees of FA groups was significantly different from the same site, increased linearly with time,but the magni-tude of change was different;(2)When FA value of corpus callosum splenium in the cut-off point was ≥0.437,the sensitivity(SE) was 83.8% , the specificity(SP) was 18.6% , ROC area under the curve was 0.903 , 95% confidence interval was from 0.846 to 0.961,standard error was 0.029;when FA value of posterior limb of internal capsule in the cut-off point ≥0.391,SE was 86.5%, SP was 11.9% ,ROC area under the curve was 0.940,95% confidence interval was from 0.898 to 0.984,standard error was 0.022. Conclusion MR DTI examination is of significant value in evaluating early the prognosis of HIE in infants.