Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees

详细信息    查看全文

• 作者：Roberta Trunzo ; Rosa Santacroce ; Giovanna D鈥橝ndrea ; Vittoria Longo ; Giuseppe De Girolamo ; Claudia Dimatteo ; Angelica Leccese ; Vincenza Lillo ; Francesco Papadia ; Maurizio Margaglione
• 关键词：Hyperphenylalaninemia ; Gene PAH ; Discordant phenotypes
• 刊名：Clinical Biochemistry
• 出版年：February, 2014
• 年：2014
• 卷：47
• 期：3
• 页码：233-235
• 全文大小：332 K

文摘

Classical phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are two phenotypes of phenylalanine hydroxylase (PAH) deficiency with different degrees of severity. We have analyzed three families in which classical PKU, MHP and a normal phenotype occurred within each family due to the different combinations of three mutations segregating within the family. Indeed, sequence PAH analysis revealed three different alleles segregating in each family. This report suggests that when discordant phenotypes occur in a family, complete analysis of the PAH gene may be performed in order to support the diagnosis and assist in accurate genetic counseling and patient management. We further support the marked heterogeneity of hyperphenylalaninemia primarily due to allelic heterogeneity at the PAH locus.