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Identification of an A lu‐mediated 12.2‐kb deletion of the complete LPAR 6 ( P2 RY 5 ) gene in a T urkish family with hypotrichosis and woolly hair
Author(s) -
Mahmoudi Hassnaa,
Tug Esra,
Parlak Ali Haydar,
Atasoy Halil Ibrahim,
Ludwig Michael,
Polat Mualla,
Pasternack Sandra M.,
Betz Regina C.
Publication year - 2012
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/j.1600-0625.2012.01504.x
Subject(s) - hypotrichosis , biology , genetics , hair loss , gene , alu element , genome , human genome
Hypotrichosis is a rare form of progressive hair loss characterized by sparse and occasionally woolly hair that is curly and breaks easily. Disease‐causing mutations in LIPH , LPAR 6 and KRT 74 have recently been identified. We describe a four‐generation pedigree from Turkey following an autosomal recessive pattern, in which the four affected members had hypotrichosis and woolly hair. By sequencing LPAR 6 and the use of SNP arrays, we revealed a homozygous loss of the entire LPAR 6 gene in the affected individuals. We hypothesize that the 12‐kb deletion resulted from illegitimate recombination secondary to slip‐replication. The orientation of three Alu repeats around LPAR 6 may have provoked the formation of a ‘triple‐barrel’ structure during replication, thereby allowing strand slipping. This first report of complete LPAR 6 loss expands the spectrum of known LPAR 6 mutations and suggests a novel mechanism for this gene and for the formation of DNA rearrangements in general.