CLN7 Disease

Variant late-infantile onset

What is the Cause?
This disease is caused mutations in the CLN7 gene, is located on chromosome 4, which produced the protein MFSD8. MFSD8 a member of a protein family called the major facilitator superfamily. This superfamily is involved with transporting substances across the cell membranes.

How is it diagnosed?
The diagnosis is usually made by histological and genetic tests on blood samples. A skin biopsy may be necessary and the abnormal storage material takes on a mixed appearance with granular osmiophilic deposits (GRODS), curvilinear bodies (CVB), rectilinear profiles (RLP), and/or fingerprint profiles (FPP). The appearance of the storage material can guide the genetic diagnostic tests in some cases.

Genetic testing is recommended to look for the exact mutation or mistake in the CLN7 gene. A blood or saliva sample will be taken to extract DNA from the cells for the test.

Does it have any alternative names?
CLN7 disease, variant late-infantile may also be referred to as variant late-infantile CLN7 disease, alongside Variant Late Infantile Neuronal Ceroid Lipofuscinosis; though was more commonly known as Variant Late-Infantile Batten Disease.

How does the disease progress?
Genotype/phenotype correlations

CLN7 disease, Variant Late-Infantile

Developmental delays begin after a few years of normal development. Children usually develop epilepsy between the ages of 3 and 7 years, along with problems sleeping and myoclonic jerks. Children begin to lose the ability to walk, play, and speak. A rapid advancement of symptoms is seen between the ages of 9 and 11. Most children with the disorder live until their late childhood or teenage years.

Photo Credit Scott Friedman

CLN7 posters from a recent BDSRA Family Conference Scientific Poster Session

Variant Infantile Batten Disease – Storch

Synaptic Changes in Neuronal Ceriod Lipofuscinosis – Tuxworth, O’Hare, & Tear

What Next?

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