Limits...
First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population.

Soltani Z, Karami F, Yassaee V, Hashemi Gorji F, Talebzadeh M, Miryounesi M - Iran Red Crescent Med J (2016)

Bottom Line: Most of the PAH mutations are missense mutations (67%), which are followed by small or large deletions (13%).This is the first case report of EX3del4765 in Asian patients with PKU.This finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with PKU.

View Article: PubMed Central - PubMed

Affiliation: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.

ABSTRACT

Introduction: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene. Most of the PAH mutations are missense mutations (67%), which are followed by small or large deletions (13%).

Case presentation: We reported a patient with classic PKU and his parents harboring a large deletion in exon 3 (EX3del4765) of PAH gene. This is the first case report of EX3del4765 in Asian patients with PKU.

Conclusions: This finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with PKU.

No MeSH data available.


Related in: MedlinePlus

Family Pedigree of the Patient
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4862320&req=5

fig24907: Family Pedigree of the Patient

Mentions: A 15-day-old male was referred to Genomic Research Center in summer 2014 in Tehran due to high level of blood Phe detected in the routine national framework of PKU neonatal screening (Table 1). He was born to consanguineous parents from East Azerbaijan province of Iran. His parents were first cousins with no family history of PKU (Figure 1). Due to persistent high level of phenylalanine in blood (1404-┬Ámol/L), the patient was diagnosed as classic PKU.


First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population.

Soltani Z, Karami F, Yassaee V, Hashemi Gorji F, Talebzadeh M, Miryounesi M - Iran Red Crescent Med J (2016)

Family Pedigree of the Patient
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4862320&req=5

fig24907: Family Pedigree of the Patient
Mentions: A 15-day-old male was referred to Genomic Research Center in summer 2014 in Tehran due to high level of blood Phe detected in the routine national framework of PKU neonatal screening (Table 1). He was born to consanguineous parents from East Azerbaijan province of Iran. His parents were first cousins with no family history of PKU (Figure 1). Due to persistent high level of phenylalanine in blood (1404-┬Ámol/L), the patient was diagnosed as classic PKU.

Bottom Line: Most of the PAH mutations are missense mutations (67%), which are followed by small or large deletions (13%).This is the first case report of EX3del4765 in Asian patients with PKU.This finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with PKU.

View Article: PubMed Central - PubMed

Affiliation: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.

ABSTRACT

Introduction: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene. Most of the PAH mutations are missense mutations (67%), which are followed by small or large deletions (13%).

Case presentation: We reported a patient with classic PKU and his parents harboring a large deletion in exon 3 (EX3del4765) of PAH gene. This is the first case report of EX3del4765 in Asian patients with PKU.

Conclusions: This finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with PKU.

No MeSH data available.


Related in: MedlinePlus