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A novel PCBD gene mutation in an Iranian patient with hyperphenylalaninemia

Marzieh Raeisi1, Nejat Mahdieh, Amir Yousefzadeh

  • 1Medical Genetics Lab. of Dr. Zeinali, Kawsar's Human Genetic Research Center, Tehran, Iran.

Clinical Laboratory
|October 19, 2013
PubMed

Insights

A novel mutation in the PCBD gene was identified in a patient with phenylketonuria (PKU). This finding expands the known spectrum of genetic causes for BH4 deficiency, impacting metabolic disorder diagnosis.

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Phenylketonuria (PKU) screening is standard in neonates, with hyperphenylalaninemias representing common phenylalanine catabolism disorders.
  • Six genes, including PAH, PTPS, DHPR, GTPCH, SR, and PCBD, are implicated in BH4 metabolism.
  • This study focuses on a referral center in Iran for molecular analysis of PKU.

Observation:

  • A 2-year-old boy presented with suspected PKU, but initial PAH gene sequencing revealed no mutations.
  • Linkage mapping using short tandem repeats (STR) was employed to screen BH4-metabolizing genes.
  • Autozygosity by descent (ABD) patterns suggested potential involvement of the PCBD gene.

Findings:

  • Sequencing of the PCBD gene identified a novel homozygous T>C substitution (X105Q) in the termination codon.
  • This mutation was found in a patient with phenylketonuria, indicating a potential cause for BH4 deficiency.
  • The identified mutation represents a novel finding within the PCBD gene.

Implications:

  • This discovery expands the known genetic mutations associated with BH4 deficiency.
  • The novel stop codon mutation in PCBD highlights the importance of comprehensive genetic analysis in diagnosing metabolic disorders.
  • Understanding these mutations aids in accurate diagnosis and potential future therapeutic strategies for PKU and related conditions.
Abstract

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