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C.380G>A homozygous mutation may be a pathogenic mutation causing urea circulatory disorder in children.

Objective to rapidly diagnose a child with citrullinemia type 1 and his parents by high resolution melting curve analysis (HRM) and DNA sequencing.

No variation was detected in 100 normal control samples.

Conclusion a case of congenital bullous Ichthyoid erythroderma caused by KRT10 gene mutation was diagnosed.

Gene sequencing showed that there was a new mutation in KRT10 gene, c.482t > G (p.l161w), which has not been reported before.

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Methods the children were examined clinically and analyzed by new generation sequencing technology.

Objective to carry out genetic test on a newborn with multiple malformations in order to clarify the cause of disease and provide help for family members’ reproduction.

The homozygous variation of ivs8 + 60g > a occurred in intron 8.

DNA sequencing confirmed that there was a homozygous mutation of c.380g > A in exon 6, which would lead to the change of ass1 protein p.r127q.

Methods G-banding karyotype analysis and chromosome microarray analysis (CMA) were performed.

The results of reverse transcription PCR showed that the variation of ivs8 + 60g > A in intron 8 of ass1 gene did not lead to abnormal RNA splicing.

Conclusion the IVS8 + 60G>A complex homozygous mutation of c.380G>A and intron 8 of the exon sixth of ASS1 gene was found in Chinese mainland population.

The karyotype and chip analysis results were verified by fluorescence in situ hybridization (FISH).

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Finally, polyphen-2 and siftblink software were used to analyze the homology and biological function of the mutation sites in ass1 gene.

Objective to analyze the clinical and genetic characteristics of a child suspected of congenital bullous Ichthyoid erythroderma.

Structural analysis showed that p.r127q was highly conserved in 45 vertebrates.

Both loci were heterozygous in the parents of the children.

Results the results of CMA analysis of newborns showed that (chr9: 131732604 ~ 141018648) were repeated, the length was 9.3mb, and the repeat site was 9q34 11q34.

CMA and fish results can help to make a clear diagnosis and provide accurate guidance for family genetic counseling..

The results of HRM showed that the HRM curves of children and their parents in the region of exon 6 and exon 8 of ass1 gene (including some adjacent introns) were inconsistent with those of normal controls.

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The G-banding karyotype of the parents’ peripheral blood was analyzed to determine the source of fetal abnormal chromosomes.

The results of G-banding karyotype analysis were 46, XX, der (1) add (1) (p34.1), the karyotype of mother was 46, XX, and the karyotype of father was 46, XY, t (1; 9) (p36.3; q34.1).

The 16 exons of ass1 gene were scanned by HRM analysis technology, and the areas with abnormal curve were sequenced.

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It was a citrulline binding site in ass1 protein, which was very important for the exercise of ass1 protein function.

Methods the peripheral blood of children, their parents and 100 normal subjects were collected.

Results the results of blood biochemical test showed that the blood ammonia in children’s peripheral blood reached 286 μ Mol / L, more than 5 times the normal reference value.

The clinical manifestations of children include special face, multiple malformations and decreased muscle tone.

Section 3.

Then, the mRNA of ass1 gene was analyzed by reverse transcription PCR.

Conclusion the abnormal phenotype of children is caused by 9q34 trisomy.

FISH results verified that the mutual translocation of 1p and 9q of father caused the onset of children.

Results the children had erythema and blisters on the trunk and limbs since birth, and then developed hyperkeratosis.

The results of tandem mass spectrometry showed that the concentration of citrulline in children’s peripheral blood was as high as 487.69 μ Mol / L and CIT / Arg were 148.66, which were much higher than the normal range.


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