TY - JOUR
T1 - First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations
AU - Sato, Ryo
AU - Inui, Takehiko
AU - Endo, Wakaba
AU - Okubo, Yukimune
AU - Takezawa, Yusuke
AU - Anzai, Mai
AU - Morita, Hiroyuki
AU - Saitsu, Hirotomo
AU - Matsumoto, Naomichi
AU - Haginoya, Kazuhiro
N1 - Publisher Copyright:
© 2016 The Japanese Society of Child Neurology
PY - 2016
Y1 - 2016
N2 - The clinical phenotypes of neuronal ceroid lipofuscinoses (NCLs) have been determined based on the age of onset and clinical symptoms. NCLs with onset between age 2 and 4 years are known as late infantile neuronal ceroid lipofuscinoses (LINCLs). The clinical features of LINCLs include visual loss and progressive myoclonus epilepsy (PME) characterized by myoclonus, seizures, ataxia, and both mental and motor deterioration. There have been reports of several genes associated with LINCLs, with mutations in the CLN6 gene reported to cause variant forms of LINCLs (vLINCLs). Here, we report the first Japanese vLINCL caused by novel CLN6 mutations, found in a patient diagnosed by whole-exome sequencing. Visual acuity in our patient was preserved until the early teens. It remains to be elucidated if preserved visual function is related to the novel mutations of CLN6. Our case reveals the efficacy of whole-exome sequencing for examination of PMEs and highlights the existence of the CLN6 mutation in the Japanese population.
AB - The clinical phenotypes of neuronal ceroid lipofuscinoses (NCLs) have been determined based on the age of onset and clinical symptoms. NCLs with onset between age 2 and 4 years are known as late infantile neuronal ceroid lipofuscinoses (LINCLs). The clinical features of LINCLs include visual loss and progressive myoclonus epilepsy (PME) characterized by myoclonus, seizures, ataxia, and both mental and motor deterioration. There have been reports of several genes associated with LINCLs, with mutations in the CLN6 gene reported to cause variant forms of LINCLs (vLINCLs). Here, we report the first Japanese vLINCL caused by novel CLN6 mutations, found in a patient diagnosed by whole-exome sequencing. Visual acuity in our patient was preserved until the early teens. It remains to be elucidated if preserved visual function is related to the novel mutations of CLN6. Our case reveals the efficacy of whole-exome sequencing for examination of PMEs and highlights the existence of the CLN6 mutation in the Japanese population.
KW - CLN6
KW - Late infantile neuronal ceroid lipofudcinosis
KW - Whole-exome sequencing
UR - http://www.scopus.com/inward/record.url?scp=84975512468&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84975512468&partnerID=8YFLogxK
U2 - 10.1016/j.braindev.2016.04.007
DO - 10.1016/j.braindev.2016.04.007
M3 - Article
C2 - 27165443
AN - SCOPUS:84975512468
VL - 38
SP - 852
EP - 856
JO - Brain and Development
JF - Brain and Development
SN - 0387-7604
IS - 9
ER -