Limits...
Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran.

Shariati G, Hamid M, Saberi A, Andashti B, Galehdari H - Clin Case Rep (2014)

Bottom Line: Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern.Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI).Here we report first finding of a novel homozygous single base deletion in the MLC1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).

View Article: PubMed Central - PubMed

Affiliation: Narges genetic & PND Laboratory, Kianpars East Mihan street, Ahvaz, Iran.

ABSTRACT
Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI). Here we report first finding of a novel homozygous single base deletion in the MLC1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).

No MeSH data available.


Related in: MedlinePlus

Partial sequence of the megalencephalic leukoencephalopathy 1 (MLC1) gene shows homozygous deletion of a cytosine at codon 150 that has been detected in affected child.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4352366&req=5

fig02: Partial sequence of the megalencephalic leukoencephalopathy 1 (MLC1) gene shows homozygous deletion of a cytosine at codon 150 that has been detected in affected child.

Mentions: As it has been illustrated in figure 2 a novel homozygous single base deletion at codon 150 was found in the affected child causing a premature stop codon (p.L150fs.160X). Consanguine parents were heterozygous for the mentioned change. To see whether this mutation is pathogenic, we checked this point mutation in 35 healthy controls. None of 35 normal genomes showed this mutation. After molecular confirmation of the disease, we performed molecular prenatal diagnosis in the 11th week of pregnancy on DNA extracted from CVS. The fetus was heterozygous and also a carrier for the novel deletion. We also advised the family to continue the pregnancy.


Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran.

Shariati G, Hamid M, Saberi A, Andashti B, Galehdari H - Clin Case Rep (2014)

Partial sequence of the megalencephalic leukoencephalopathy 1 (MLC1) gene shows homozygous deletion of a cytosine at codon 150 that has been detected in affected child.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4352366&req=5

fig02: Partial sequence of the megalencephalic leukoencephalopathy 1 (MLC1) gene shows homozygous deletion of a cytosine at codon 150 that has been detected in affected child.
Mentions: As it has been illustrated in figure 2 a novel homozygous single base deletion at codon 150 was found in the affected child causing a premature stop codon (p.L150fs.160X). Consanguine parents were heterozygous for the mentioned change. To see whether this mutation is pathogenic, we checked this point mutation in 35 healthy controls. None of 35 normal genomes showed this mutation. After molecular confirmation of the disease, we performed molecular prenatal diagnosis in the 11th week of pregnancy on DNA extracted from CVS. The fetus was heterozygous and also a carrier for the novel deletion. We also advised the family to continue the pregnancy.

Bottom Line: Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern.Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI).Here we report first finding of a novel homozygous single base deletion in the MLC1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).

View Article: PubMed Central - PubMed

Affiliation: Narges genetic & PND Laboratory, Kianpars East Mihan street, Ahvaz, Iran.

ABSTRACT
Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI). Here we report first finding of a novel homozygous single base deletion in the MLC1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).

No MeSH data available.


Related in: MedlinePlus