Chediak–Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1期刊名称： American Journal of Medical Genetics Part A
作者： Irini Manoli,Gretchen Golas,Wendy Westbroek,Thierry Vilboux,Thomas C.
Markello,Wendy Introne,Dawn Maynard,Ben Pederson,Ekaterini Tsilou,Michael B.
Jordan,P. Suzanne Hart,James G. White,William A. Gahl,Marjan Huizing
年份： 2010年
期号： 第6期
关键词： Retina;Chromosomes, Human, Pair
1;Lysosomes;Fibroblasts;Humans;Chediak-Higashi Syndrome;Aneuploidy;Codon, Nonn;Sequence Analysis, DNA;Exons
摘要：Chediak-Higashi syndrome (CHS) is a rare autosomal recessive dia characterized by varia
ble oculocutaneous albinism, immunodeficiency, mild bleeding diathesis, and an accelerated lymphoproliferative state. Abnormal lysosome-related organelle membrane function leads to the accumulation of large intracellular vesicles in veral cell types, including granulocytes, melanocytes, and platelets. This report describes a vere ca of CHS resulting from paternal heterodisomy of chromosome 1, causing homozygosity for the most distal nonn mutation (p.E3668X, exon 50) reported to date in the LYST/CHS1 gene. The mutation is located in the WD40 region of the CHS1 protein. The patient's fibroblasts expresd no detectable CHS1. Besides manifesting the classical CHS findings, the patient exhibited hypotonia and global developmental delays,...
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