Two genes are responsible for Griscelli syndrome at the same 15q21 locus
Küçük Resim Yok
Tarih
2000
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Academic Press Inc
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Griscelli syndrome is a rare autosomal recessive disease characterized by pigment dilution, variable cellular immunodeficiency, and an acute phase of uncontrolled T lymphocyte and macrophage activation. We previously mapped the disease locus to 15q21 and showed that a MyoVa gene (HGMW-approved symbol MYO5A) defect leads to Griscelli syndrome. We report a second MyoVa mutation in a new patient, confirming this first finding. However, in four other Griscelli syndrome patients analyzed, the MYOVA protein is expressed, and no mutation can be detected in the MyoVa gene coding sequence, even in the alternatively spliced region for which exon-intron boundaries were characterized. Linkage analysis performed in 15 Griscelli families thus far studied confirms the first localization. However, fine haplotype analysis in three families strongly suggests the existence of a second gene at the same locus for Griscelli syndrome less than 7.3 cM distant from the MyoVa gene. (C) 2000 Academic Press.
Açıklama
Anahtar Kelimeler
Kaynak
Genomics
WoS Q Değeri
Q1
Scopus Q Değeri
Q2
Cilt
63
Sayı
3
