Analysis of clinical phenotype and TGM1 gene mutation in a child with neonatal congenital ichthyosis / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic cause for a child with congenital ichthyosis.@*METHODS@#The child was subjected to next generation sequencing using a specific gene panel. Suspected mutation was validated by Sanger sequencing.@*RESULTS@#The proband was found to harbor compound heterozygous mutations c.327delG (p.Met109Ilefs*2) and c.791G>A (p.Arg264Gln) of the TGM1 gene, which were respectively inherited from his mother and father. The same mutations were not found among 101 healthy controls. c.327delG was not reported previously. By bioinformatic analysis, both mutations are likely to impair the function of TGase-1 protein.@*CONCLUSION@#The compound heterozygous mutations of c.327delG and c.791G> A of the TGM1 gene probably underlie the ichthyosis in the proband. The result has facilitated prenatal diagnosis for this pedigree.

Neonatal Kabuki syndrome: a report of two cases / 中华围产医学杂志

This paper reported the diagnosis and treatment of two neonates with Kabuki syndrome (KS).Neither of them had typical facial features of KS during the neonatal period,but poor response,abnormal appearance and multiple organ dysplasia were observed in both.Case 1 was lost to follow up after discharge,while typical KS facial features were gradually appeared in Case 2 including eversion of lower lateral eyelids,arched eyebrows,sparse eyebrow arch,flattened nasal tip,prominent ears,during a three-month follow-up after birth.Next-generation sequencing revealed that both neonates were KS caused by lysine methyltransferase 2D (KMT2D) gene mutation,of which case 1 had a heterozygous deletion mutation ofc.13895delC (p.P4632HfsTer8) in KMT2D gene,while case 2 had a heterozygous repeat mutation of c.12809dupA (p.T4271Dfs*63) in KMT2D gene.Both cases were defined as de novo mutations and the one carried by case 2 was a newly discovered pathogenic mutation.

Analysis of TCOF1 mutation in a Chinese patient with Treacher-Collins syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutation of TCOF1 gene in a Chinese family affected with Treacher-Collins syndrome.</p><p><b>METHODS</b>Clinical data of the patient was collected. The analysis included history taking, clinical examination and genetic testing. All coding regions of the TCOF1 gene were subjected to PCR amplification and Sanger sequencing.</p><p><b>RESULTS</b>A novel mutation c.2261ins G (p.E95X) of the TCOF1 gene was discovered in the patient. The same mutation was not found in his parents and 100 healthy controls.</p><p><b>CONCLUSION</b>The c.2261insG (p.E95X) mutation of the TCOF1 gene probably underlies the disease in the patient. Genetic testing can facilitate diagnosis and genetic counseling for families affected with TCS.</p>

Establishment and preliminary application of real time PCR assay for quantitative detection of CRLF2 / 国际检验医学杂志

Objective To establish a real‐time quantitative PCR method for the detection of cytokine receptor‐like factor 2 (CRLF2) expression .Methods Specific primers amplification target gene CRLF2 and housekeeping genes ABL were designed ,the purified PCR products were performed the TA cloning .After bacterial colony PCR screening and sequencing ,then the recombinant plasmids DNA was extracted and measured by using UV spectrophotometer and converted to copies/mL concentration .Finally it was diluted for preparing the plasmid standard substance ,then the standard curve was drawn for observing the sensitivity and linear rang ,meanwhile the stability of the plasmid DNA was evaluated .This method was initially applied to detect the CRLF2 level of bone marrow mononuclear cells in 10 cases of healthy children and 10 cases of newly diagnosed acute lymphoblastic leukemia (ALL) .Results CRLF2 PCR product had a single specific melting curve;the linear detection range of the standard substance was 103 - 108 copies /ml;the plasmid standard substance by freeze‐thawing for 3 times remained stable;the CRLF2 level of clinical sample was within the linear detection range of standard substance .Conclusion The real‐time quantitative PCR method for CRLF2 established by our laboratory has good specificity ,linearity range and stability ,which can be applied to the quantitative detection of CRLF2 gene in clinical ALL children .

Ikaros and childhood acute lymphoblastic leukemia / 国际肿瘤学杂志

Ikaros is a regulatory factor playing an important role in control of the development of hema-topoietic cells and immune system;and as a tumor suppressor,its aberration can cause both T and B lineage development arrest and neoplastic transformation,leading to insensitive to therapy and poor prognosis in actue lymphoblastic leukemia. Recently,researches on how Ikaros affects the leukemogenesis and prognosis become the focus of attention.