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JIMD Reports - Case and Research Reports, 2012/3: 6

As a result, the mutational hotspot should be confirmed by further research based on a large number of patients. MMA is a family of lethal, severe, and multisystems organic acid metabolic errors, which has a wide clinical spectrum, including anorexia, failure to thrive, hypotonia, developmental delay, progressive renal failure, functional immune impairment, optic nerve atrophy, and hematologic abnormalities. Similar to the report by Liu et al. However, contrary to Liu et al. Liu et al. Yu et al. However, in Suzhou patients with MMA, the mutations c.


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Therefore, the hotspot mutations in Chinese patients with MMA might be c. Citrullinemia is an autosomal recessive disorder and a urea cycle disease leading to a wide spectrum of phenotypes, from life-threatening neonatal hyperammonemia to adult onset with mild symptoms, and even no manifestation Saheki and Kobayashi, ; Gao et al.

More than mutations in ASS1 gene have been identified in worldwide patients Diez-Fernandez et al. Whereas, the c. However, in this study, only one CTLN 1 patient and two mutations of the ASS1 gene were identified in Suzhou citurillinemia patients, which could be caused by ethnic specificity. In above countries, c. In Japanese patients, the c. In Korea patients, the IVS16ins3kb and the c. In another Chinese population, the c. Some other studies also observed c. In our study, we found the c. In addition, another reported hotspot mutation c. As a result, c.

This condition is inherited by autosomal recessive pattern and has a wide spectrum of symptoms, including intellectual disability, progressive problems with development, movement disorders, difficulty swallowing, seizures, behavioral problems, and inability to control body temperature.


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In mainland of China, BH4 deficiency accounted for 8. To date, more than 90 mutations in PTS gene have been reported in different populations. There are several mutational hotspots in different regions. Wang and coworkers investigated PTPS deficiency patients and found the c. Similar to the report by Ye et al. In Suzhou BH4 deficiency patients, we also found the c.

However, the second common mutation was c. The two most common mutations accounted for The remaining four mutation alleles were c. However, c. This difference could be caused by a small sample size and different populations. As a result, these mutational hotspots are potential candidates for genetic analysis of Chinese patients with BH4 deficiency. IBD deficiency is a very rare disorder characterized by disrupting the breakdown of Val. This condition is an autosomal recessively inherited disease and caused by mutations in the ACAD8 gene.

To the best of our knowledge, only 27 patients with IBD deficiency were reported in literature, and 28 mutations in the ACAD8 gene were detected in these patients Yun et al. Most patients with IBD deficiency were asymptomatic in neonatal period, and a few had developed features such as dilated cardiomyopathy, hypotonia, developmental delay, and speech delay Yun et al.

In Suzhou population of newborns, three patients with IBD deficiency were identified from more than , newborns, and all patients remained asymptomatic during treatment and follow-up.

JIMD Reports: JIMD Reports - Case and Research Reports, 2012/3 6 (2012, Paperback)

Two reported common mutations were detected, including c. However, we found that the c. As a result, the two mutations c. In addition, a novel heterozygous mutation c. Despite these five kinds of IEMs are extremely rare in Suzhou population, the cases affected with one of these IEMs are homozygous for one of the mutations, including c. Therefore, these mutations might be hotspots causing the above five IEMs.

In 32 mutation alleles of 16 patients with one of above six IEMs, 24 reported mutations and 6 novel mutations were detected. This might be caused by a small sample size and further research is needed. In summary, we have detected a few mutational hotspots and some novel mutations that account for most Suzhou patients with IEMs identified by expanded newborn screening that might be pathogenic.

Our findings could be of value for genetic counseling and genetic diagnosis of IEMs. The protocol was reviewed and approved by Ethic committee of the affiliated Suzhou hospital of Nanjing Medical University. BW and JX conceived and designed the research, analyzed data, and wrote the manuscript. QW conducted experiments. HL analyzed data and reviewed the manuscript. All authors read and approved the manuscript.

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. We thank all colleagues for their contributions, and Pin Zhu for technical supports in genetic analysis.

Local study portals

Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria. Alfadhel, M.


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Expanded newborn screening program in saudi arabia: incidence of screened disorders. Health 53, — Alibakhshi, R.

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Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations. Andresen, B. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Arnold, G. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.

Supporting children with Inherited Metabolic Disorders

Blau, N. International database of tetrahydrobiopterin deficiencies. Bueno, M. Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain. Burwinkel, B.