Chediak-Higashi syndrome; CHS

What is Chediak-Higashi syndrome; CHS?

Chediak-Higashi syndrome; CHS is a rare disease. It is also known as CHS.

This condition is characterised by oculocutaneous albinism which results in slate grey or light skin and fair hair, nystagmus and photophobia. Hyperpigmented lesions may develop after exposure to sunlight (Yukishige et al., 1999). The retina is pale and the iris translucent. Frequent infections are the rule and most children die in childhood from recurrent infections or a malignant lymphoma. Haemophagocytic lymphohistiocytosis is a characteristic complication. Occasionally seizures and mental retardation are problems. Kondo et al., (1994) reported a case with cerebellar cortical atrophy. Pettit et al., (1984) reported a 25 year-old-man who developed spinocerebellar degeneration and Parkinsonism. Inoue et al., (1991) reported a case with an ovarian tumour detected at 13 years of age. Histology revealed a sclerosing stromal tumour. Sheramata et al., (1971) also reported adult cases who developed spinocerebellar degeneration.
A hallmark of the condition is the presence of giant lysosomal granules in the peripheral granulocytes. Leukocyte function is impaired in many ways (killer cell deficiency) and platelets are also affected. Fibroblasts have been shown to contain larger than normal lysosomes (Penner and Prieur, 1987). Fukuda et al., (2000) present evidence to suggest that oral prednisolone therapy improves peripheral neuropathy in this condition. The neuropathy may be secondary to a chronic inflammatory process.
Diukman et al., (1992) reported successful prenatal diagnosis of an affected fetus by fetal blood sampling at 17 weeks. They suggested that prenatal diagnosis might be possible by looking at lysosomes in amniotic fluid or CVS cells. Durandy et al., (1993) looked at hair shafts by light microscopy and undertook light and EM studies of polymorphonuclear cells. Correct prediction of unaffected fetuses has also been achieved (Golbus et al., 1989; Fischer et al., 1990).
Barbosa et al., (1996) found mutations in the LYST gene coding for a phosphoprotein thought to act as a relay integrating cellular signal response coupling. Mutations in the same gene were found to be responsible for the bg - beige mouse. The gene in humans maps to 1q43. Nagle et al., (1996) published the full sequence of the human cDNA and suggested that it codes for a protein similar to the yeast vacuolar sorting protein VPS15. Karim et al., (1997), Karim et al., (2002) and Barbosa et al., (1997) reported further mutations. Paternal heterodisomy for 1 can also result in this syndrome (Manoli et al., 2010).
Spritz (1999) provides a good review of disorders of pigmentation including Hermansky-Pudlak, Chediak-Higashi, and Griscelli syndrome.

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* This information is courtesy of the L M D.

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What gene changes cause Chediak-Higashi syndrome; CHS?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 214500 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
LYST - 1q42.3

What are the main symptoms of Chediak-Higashi syndrome; CHS?

The typical symptoms of the syndrome are:
Bruising susceptibility, Abnormality of neutrophils, Abnormality of temperature regulation, Aplasia/Hypoplasia of the cerebellum, Intellectual disability, Tremor, Neurodegeneration, Thrombocytopenia, Macular hypoplasia, Lymphadenopathy, Leukopenia, Jaundice, Seizure, Ocular albinism, Nystagmus, Periodontitis, Paresthesia, Autosomal recessive inheritance, Photophobia, Cognitive impairment, Hypertonia, Hepatomegaly, Hypopigmentation of the skin, Hypopigmentation of hair, Hyporeflexia, Visual impairment, Generalized hypopigmentation, Generalized hyperpigmentation, Gingivitis, Gingival bleeding, Giant melanosomes in melanocytes, Foot dorsiflexor weakness, Gastrointestinal hemorrhage, Gait disturbance, Recurrent respiratory infections, Splenomegaly, Strabismus, Recurrent cutaneous abscess formation, Skin ulcer, Iris hypopigmentation, Progressive peripheral neuropathy, Recurrent systemic pyogenic infections, Reduced tendon reflexes, Epistaxis, Developmental regression, Abnormality of extrapyramidal motor function,

How does someone get tested for Chediak-Higashi syndrome; CHS?

The initial testing for Chediak-Higashi syndrome; CHS can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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