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NCL Disease

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CLN9, CLCN6 and SGSH

Small numbers of cases have been found for three other genes

CLN9 gene symbol has been used for NCL with onset in the juvenile age range that is not CLN3 disease. Two pairs of affected siblings were described as CLN9 by Schulz et al. (see https://onlinelibrary.wiley.com/doi/10.1002/ana.20187). A later study by El Haddad et al (https://analyticalsciencejournals.onlinelibrary.wiley.com/doi/10.1002/elps.201200472) has demonstrated that these patients had mutations in CLN5.

CLCN6 - Heterozygous mutations in this gene cause disease ressembling NCL.

As there is growing interest in this gene as a cause of NCL, tables have been prepared for the patients and their mutations reported in the literature. The database OMIM (Online Mendelian Inheritance in Man) has added an entry describing disease caused by heterozygous CLCN6 mutations as CLN15.

 

 

Note that one late onet NCL patient (see Poet et al. 2006 https://www.pnas.org/doi/10.1073/pnas.0606137103) was subsequently found by Kousi et al. to have two mutations in CLN5. 

SGSH - Two heterozygous mutations have been described in a single patient who was diagnosed with adult onset NCL (Sleat et al., 2009). A later report has corrected the diagnosis to MPSIII, adult onset https://doi.org/10.1093/med/9780199590018.003.0014 (note this reference is not open access).