Chediak-Higashi syndrome (CHS) is a rare, autosomal, recessive lysosomal disorder with hematological and immunologic abnormalities; however, stem-cell transplantation from a matched or related donor may be curative. Many mutations of the CHS1/LYST gene have been reported to date. We report a novel nonsense mutation of the CHS1/LYST gene in 3 Omani patients. Three patients from 2 different families presented with clinical and laboratory features of CHS and a history of death of a previous sibling because of a severe illness, suggestive of the accelerated phase of CHS. Giant granules were present in the myeloid cell lines. Before the stem-cell transplant, the first patient underwent gene sequencing of all exons of the lysosome trafficking regulator (CHS1/LYST) gene and revealed a nonsense mutation in exon 5 (c.925C>T, p.R309X). Subsequently, upon presentation, the second and third patients' direct gene sequencing of exon 5 revealed the same mutation. We report a nonsense mutation in exon 5 (c.925C>T, p.R309X). This supports the allelic heterogeneity of CHS and is in line with most reported mutation types that lead to a truncated protein. Identification of the mutation type will facilitate timely diagnosis, management, and family counseling for those with affected children in Oman.
Chediak - Higashi syndrome ( CHS ) is a rare , autosomal , recessive lysosomal disorder with hematological and immunologic abnormalities ; however , stem - cell transplantation from a matched or related donor may be curative . Many mutations of the CHS1/LYST gene have been reported to date . We report a novel nonsense mutation of the CHS1/LYST gene in 3 Omani patients . Three patients from 2 different families presented with clinical and laboratory features of CHS and a history of death of a previous sibling because of a severe illness , suggestive of the accelerated phase of CHS . Giant granules were present in the myeloid cell lines . Before the stem - cell transplant , the first patient underwent gene sequencing of all exons of the lysosome trafficking regulator ( CHS1/LYST ) gene and revealed a nonsense mutation in exon 5 ( c.925C > T , p . R309X ) . Subsequently , upon presentation , the second and third patients ' direct gene sequencing of exon 5 revealed the same mutation . We report a nonsense mutation in exon 5 ( c.925C > T , p . R309X ) . This supports the allelic heterogeneity of CHS and is in line with most reported mutation types that lead to a truncated protein . Identification of the mutation type will facilitate timely diagnosis , management , and family counseling for those with affected children in Oman .
Which syndrome is associated with mutations in the LYST gene?
Which syndrome is associated with mutations in the LYST gene ?
Chediak-Higashi syndrome
Chediak-Higashi syndrome