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A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia

Content Provider	Springer Nature Link
Author	Canizales Quinteros, Samuel Aguilar Salinas, Carlos A. Huertas Vázquez, Adriana Ordóñez Sánchez, María L. Rodríguez Torres, Maribel Venturas Gallegos, José L. Riba, Laura Ramírez Jimenez, Salvador Salas Montiel, Rocío Medina Palacios, Giovani Robles Osorio, Ludivina Miliar García, Angel Rosales León, Luis Ruiz Ordaz, Blanca H. Zentella Dehesa, Alejandro Ferré D’Amare, Adrian Gómez Pérez, Francisco J. Tusié Luna, Ma. Teresa.
Copyright Year	2004
Abstract	Autosomal recessive hypercholesterolemia (ARH) is characterized by elevated LDL serum levels, xanthomatosis, and premature coronary artery disease. Three loci have been described for this condition (1p35, 15q25-q26 and 13q). Recently, the responsible gene at the 1p35 locus, encoding an LDL receptor adaptor protein (ARH) has been identified. We studied a Mexican ARH family with two affected siblings. Sequence analysis of the ARH gene (1p35 locus) revealed that the affected siblings are homozygous for a novel mutation (IVS4+2T>G) affecting the donor splice site in intron 4, whereas both the parents and an unaffected sister are heterozygous for this mutation. The IVS4+2T>G mutation results in a major alternative transcript derived from a cryptic splice site, which carries an in-frame deletion of 78 nucleotides in the mature mRNA. The translation of this mRNA yields a mutant protein product (ARH-26) lacking 26 amino acids, resulting in the loss of β-strands β6 and β7 from the PTB domain. This is the first case where a naturally occurring mutant with an altered PTB domain has been identified.
Starting Page	114
Ending Page	120
Page Count	7
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	116
Issue Number	1-2
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2004-11-17
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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