title: Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome.
abstract: Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder in which an immune deficiency occurs in association with pigmentation abnormalities. Most patients who do not undergo bone marrow transplantation die of a lymphoproliferative syndrome, though some patients with CHS have a relatively milder clinical course of the disease. The large size of the LYST gene, defective in CHS, has made it difficult to screen for mutations in a large number of patients. Only 8 mutations have been identified so far, and all lead to a truncated LYST protein. We conducted protein truncation tests on this gene in 8 patients with CHS. Different LYST mutations were identified in all subjects through this approach, strengthening the observation of a high frequency of truncated LYST proteins as the genetic cause of CHS.
authors.affiliation: Unité de Recherche sur le développement normal et pathologique du système immunitaire INSERM U429, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Certain
authors.forename: F
authors.initials: F
authors.lastname: Barrat
authors.forename: E
authors.initials: E
authors.lastname: Pastural
authors.forename: F
authors.initials: F
authors.lastname: Le Deist
authors.forename: J
authors.initials: J
authors.lastname: Goyo-Rivas
authors.forename: N
authors.initials: N
authors.lastname: Jabado
authors.forename: M
authors.initials: M
authors.lastname: Benkerrou
authors.forename: R
authors.initials: R
authors.lastname: Seger
authors.forename: E
authors.initials: E
authors.lastname: Vilmer
authors.forename: G
authors.initials: G
authors.lastname: Beullier
authors.forename: K
authors.initials: K
authors.lastname: Schwarz
authors.forename: A
authors.initials: A
authors.lastname: Fischer
authors.forename: G
authors.initials: G
authors.lastname: de Saint Basile
mesh_terms: D000293:Adolescent; D000328:Adult; D002609:Chediak-Higashi Syndrome / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D020031:Epstein-Barr Virus Infections / Q000150:complications; D005260:Female; D006801:Humans; D007223:Infant; D008232:Lymphoproliferative Disorders / Q000209:etiology; D008247:Lysosomes / Q000378:metabolism; D008297:Male; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion; D013728:Terminator Regions, Genetic; D033921:Vesicular Transport Proteins
chemical_list: D003062:Codon; C102161:LYST protein, human; D011506:Proteins; D012333:RNA, Messenger; D033921:Vesicular Transport Proteins