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    Pubmed 30285654

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    adriele501
    This report describes the first case of late infantile neuronal ceroid lipofuscinosis (NCL) caused by a homozygous CLN6 mutation in a boy from China. The boy presented with epilepsy, language issues, ataxia, and an unstable gait. Genetic testing revealed a homozygous missense mutation in CLN6. The mutation was not present in 259 controls. This expands the genetic causes of NCL and highlights the importance of genetic testing to diagnose similar cases.

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    Pubmed 30285654

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    adriele501
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    This report describes the first case of late infantile neuronal ceroid lipofuscinosis (NCL) caused by a homozygous CLN6 mutation in a boy from China. The boy presented with epilepsy, language issues, ataxia, and an unstable gait. Genetic testing revealed a homozygous missense mutation in CLN6. The mutation was not present in 259 controls. This expands the genetic causes of NCL and highlights the importance of genetic testing to diagnose similar cases.

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    This report describes the first case of late infantile neuronal ceroid lipofuscinosis (NCL) caused by a homozygous CLN6 mutation in a boy from China. The boy presented with epilepsy, language issues, ataxia, and an unstable gait. Genetic testing revealed a homozygous missense mutation in CLN6. The mutation was not present in 259 controls. This expands the genetic causes of NCL and highlights the importance of genetic testing to diagnose similar cases.

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    3 views3 pages

    Pubmed 30285654

    Uploaded by

    adriele501
    This report describes the first case of late infantile neuronal ceroid lipofuscinosis (NCL) caused by a homozygous CLN6 mutation in a boy from China. The boy presented with epilepsy, language issues, ataxia, and an unstable gait. Genetic testing revealed a homozygous missense mutation in CLN6. The mutation was not present in 259 controls. This expands the genetic causes of NCL and highlights the importance of genetic testing to diagnose similar cases.

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    PMID- 30285654

    OWN - NLM
    STAT- MEDLINE
    DCOM- 20190523
    LR - 20221207
    IS - 1471-2350 (Electronic)
    IS - 1471-2350 (Linking)
    VI - 19
    IP - 1
    DP - 2018 Oct 1
    TI - A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis
    caused
    by a homozygous mutation in a boy from China: a case report.
    PG - 177
    LID - 10.1186/s12881-018-0690-x [doi]
    LID - 177
    AB - BACKGROUND: Neuronal ceroid lipofuscinosis (NCLs) are lysosomal storage
    disorders
    characterized by seizures, motor impairment, and loss of vision. Ceroid
    lipofuscinosis (CLN) gene mutations are the cause, but NCL cases arising from
    CLN6 mutations have not been described in China to date. The CLN6 protein,
    which
    plays a role in lysosomal function, is an endoplasmic reticulum (ER) membrane
    protein with seven transmembrane (TM) domains. It has a cytosolic-facing
    amino
    terminal domain and a luminal-facing carboxyl terminal domain, with six loops
    between the TM domains. CASE PRESENTATION: Here we report a case involving a
    Chinese boy whose suspected diagnosis was a hereditary leukoencephalopathy,
    based
    on brain MRI imaging and epilepsy symptoms, language articulation disorders,
    ataxia, and unstable gait. The electroencephalogram showed epileptic
    discharges,
    and the brain MRI scan showed high signal intensity adjacent to the bilateral
    posterior horns of the lateral ventricles on T2-weighted images, along with
    cerebellar atrophy. Using next-generation sequencing for the genes in a panel
    for
    hereditary leukoencephalopathies, we detected a homozygous missense point
    mutation c.892G > A(p.Glu298Lys) in CLN6, and the variant was interpreted as
    pathogenic on in silico analysis. Absence of this mutation was confirmed in
    259
    controls. Late infantile NCL and secondary epilepsy were diagnosed, and oral
    sodium valproate was prescribed. The epilepsy was not well controlled,
    however,
    and the other signs had not improved at the 6-month follow-up. We also
    analyzed
    the loci of 31 CLN6 missense mutations, including those previously reported
    and
    the current one. We found that 22.6% (7/31) of the mutations are in the
    cytoplasmic domains, about 32.2% (10/31) are in the TM domains, and about
    45.2%
    (14/31) are in the luminal domains. These mutations were mostly located in
    the
    TM3-TM4 loop (6/31), TM1-TM2 loop (4/31), and C-terminus (4/31), with none
    found
    in the TM4-TM5 loop, TM5-TM6 loop, or TM7. CONCLUSIONS: We report the first
    case
    in China of NCL caused by a CLN6 mutation, expanding the genotype options for
    NCLs. In practice, NCLs generally are not the initial suspected diagnosis for
    such cases. Use of a gene sequencing panel for investigating unexplained
    seizures
    or leukoencephalopathies can help confirm the diagnosis.
    FAU - Sun, Guilian
    AU - Sun G
    AD - Department of Pediatrics, The First Hospital of China Medical University, No.
    155
    Nanjing North Street, Heping District, Shenyang, 110001, Liaoning Province,
    People's Republic of China.
    FAU - Yao, Fang
    AU - Yao F
    AD - Department of Pediatrics, The First Hospital of China Medical University, No.
    155
    Nanjing North Street, Heping District, Shenyang, 110001, Liaoning Province,
    People's Republic of China.
    FAU - Tian, Zhuoling
    AU - Tian Z
    AD - Department of Pediatrics, The First Hospital of China Medical University, No.
    155
    Nanjing North Street, Heping District, Shenyang, 110001, Liaoning Province,
    People's Republic of China.
    FAU - Ma, Tianjiao
    AU - Ma T
    AD - Department of Pediatrics, The First Hospital of China Medical University, No.
    155
    Nanjing North Street, Heping District, Shenyang, 110001, Liaoning Province,
    People's Republic of China.
    FAU - Yang, Zhiliang
    AU - Yang Z
    AUID- ORCID: 0000-0002-7098-2519
    AD - Department of Pediatrics, The First Hospital of China Medical University, No.
    155
    Nanjing North Street, Heping District, Shenyang, 110001, Liaoning Province,
    People's Republic of China. sizhewujiu@163.com.
    LA - eng
    PT - Case Reports
    PT - Journal Article
    DEP - 20181001
    PL - England
    TA - BMC Med Genet
    JT - BMC medical genetics
    JID - 100968552
    RN - 0 (CLN6 protein, human)
    RN - 0 (Membrane Proteins)
    SB - IM
    MH - Adult
    MH - Asian People
    MH - Base Sequence
    MH - Child, Preschool
    MH - Diagnosis, Differential
    MH - Electroencephalography
    MH - Female
    MH - Gene Expression
    MH - Heterozygote
    MH - Homozygote
    MH - Humans
    MH - Leukoencephalopathies/diagnostic imaging/ethnology/*genetics/physiopathology
    MH - Magnetic Resonance Imaging
    MH - Male
    MH - Membrane Proteins/*genetics
    MH - *Mutation, Missense
    MH - Neuronal Ceroid-Lipofuscinoses/diagnostic
    imaging/ethnology/*genetics/physiopathology
    MH - Pedigree
    MH - Protein Domains
    MH - Seizures/diagnostic imaging/ethnology/*genetics/physiopathology
    PMC - PMC6167792
    OTO - NOTNLM
    OT - CLN6
    OT - Endoplasmic reticulum
    OT - Lysosomal storage disorder
    OT - Neurodegeneration
    OT - Neuronal ceroid lipofuscinosis
    COIS- ETHICS APPROVAL AND CONSENT TO PARTICIPATE: Written informed consent was
    obtained
    from the patient’s parents for the participation. A copy of the written
    consent
    is available for review by the Editor of this journal. CONSENT FOR
    PUBLICATION:
    The parent of the patient consented to the publication of the case and any
    accompanying images with written consent. COMPETING INTERESTS: The authors
    declare that they have no competing interests. PUBLISHER’S NOTE: Springer
    Nature
    remains neutral with regard to jurisdictional claims in published maps and
    institutional affiliations.
    EDAT- 2018/10/05 06:00
    MHDA- 2019/05/24 06:00
    PMCR- 2018/10/01
    CRDT- 2018/10/05 06:00
    PHST- 2018/07/11 00:00 [received]
    PHST- 2018/09/20 00:00 [accepted]
    PHST- 2018/10/05 06:00 [entrez]
    PHST- 2018/10/05 06:00 [pubmed]
    PHST- 2019/05/24 06:00 [medline]
    PHST- 2018/10/01 00:00 [pmc-release]
    AID - 10.1186/s12881-018-0690-x [pii]
    AID - 690 [pii]
    AID - 10.1186/s12881-018-0690-x [doi]
    PST - epublish
    SO - BMC Med Genet. 2018 Oct 1;19(1):177. doi: 10.1186/s12881-018-0690-x.

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