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A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling

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ABSTRACT

Mucolipidosis III (ML III) gamma is a very rare autosomal-recessive disorder characterized by the abnormal trafficking and subcellular localization of lysosomal enzymes due to mutations in the GNPTG gene. The present study consists of a report of a Brazilian compound heterozygote patient with ML III gamma resulting from one mutant paternal allele and one allele that had most likely undergone a de novo or maternal germline mutation. This is the first report of a de novo mutation in ML III gamma. This finding has significant implications for genetic counseling.

No MeSH data available.


Quantitative mRNA studies. The relative mRNA level of GNPTG was determined in a blood sample of the patient and her relatives, as well three controls, by real-time PCR and normalized to GAPDH mRNA expression. The final values are the mean values of three real-time PCRs made from two RNA preparations for each individual, and expressed as the fold change ± SD. The values fond in father and patient were found to differ from those found in controls. *p < 0.001 Student's test.
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f0010: Quantitative mRNA studies. The relative mRNA level of GNPTG was determined in a blood sample of the patient and her relatives, as well three controls, by real-time PCR and normalized to GAPDH mRNA expression. The final values are the mean values of three real-time PCRs made from two RNA preparations for each individual, and expressed as the fold change ± SD. The values fond in father and patient were found to differ from those found in controls. *p < 0.001 Student's test.

Mentions: Quantitative RT-PCR revealed that the amount of GNPTG mRNA found in blood samples of the patient, her father and her mother was approximately 1.6%, 54% and 88.5% of the levels found in controls (Fig. 2).


A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling
Quantitative mRNA studies. The relative mRNA level of GNPTG was determined in a blood sample of the patient and her relatives, as well three controls, by real-time PCR and normalized to GAPDH mRNA expression. The final values are the mean values of three real-time PCRs made from two RNA preparations for each individual, and expressed as the fold change ± SD. The values fond in father and patient were found to differ from those found in controls. *p < 0.001 Student's test.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC5121289&req=5

f0010: Quantitative mRNA studies. The relative mRNA level of GNPTG was determined in a blood sample of the patient and her relatives, as well three controls, by real-time PCR and normalized to GAPDH mRNA expression. The final values are the mean values of three real-time PCRs made from two RNA preparations for each individual, and expressed as the fold change ± SD. The values fond in father and patient were found to differ from those found in controls. *p < 0.001 Student's test.
Mentions: Quantitative RT-PCR revealed that the amount of GNPTG mRNA found in blood samples of the patient, her father and her mother was approximately 1.6%, 54% and 88.5% of the levels found in controls (Fig. 2).

View Article: PubMed Central - PubMed

ABSTRACT

Mucolipidosis III (ML III) gamma is a very rare autosomal-recessive disorder characterized by the abnormal trafficking and subcellular localization of lysosomal enzymes due to mutations in the GNPTG gene. The present study consists of a report of a Brazilian compound heterozygote patient with ML III gamma resulting from one mutant paternal allele and one allele that had most likely undergone a de novo or maternal germline mutation. This is the first report of a de novo mutation in ML III gamma. This finding has significant implications for genetic counseling.

No MeSH data available.