Screening and Carrier Rate of Neuronal Ceroid Lipofuscinosis in Chihuahua Dogs in Japan

Shahnaj Pervin; Md Shafiqul Islam; Naomi Tada; Toshihiko Tsutsui; Mohammad Mahbubur Rahman; Akira Yabuki; Martia Rani Tacharina; Tofazzal Md Rakib; Shinichiro Maki; Osamu Yamato

doi:10.3390/ani12091210

Screening and Carrier Rate of Neuronal Ceroid Lipofuscinosis in Chihuahua Dogs in Japan

Shahnaj Pervin, Md Shafiqul Islam, Naomi Tada, Toshihiko Tsutsui, Mohammad Mahbubur Rahman, Akira Yabuki, Martia Rani Tacharina, Tofazzal Md Rakib, Shinichiro Maki, Osamu Yamato

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

Abstract

Neuronal ceroid lipofuscinosis (NCL) is a group of rare lethal neurodegenerative lysosomal storage diseases that occur in a range of dog breeds, including Chihuahuas. Recently, a homozygous single base-pair deletion (c.846delT), which causes a frame shift generating a premature stop codon (p.Phe282Leufs13*) in the canine CLN7/MFSD8 gene, has been identified as a causative mutation for NCL in Chihuahuas. The objective of this study was to determine the frequency of the mutant allele and/or carrier rate of NCL in Chihuahuas in Japan using a newly designed real-time PCR assay. Samples of saliva were randomly collected from 1007 Chihuahua puppies during physical examinations prior to the transportation to pet shops. Screening results revealed a carrier rate of 1.29%, indicating a mutant allele frequency (0.00645) that is considered sufficiently high to warrant measures for the control and prevention of this lethal disease. The genotyping assay designed in this study could make a valuable contribution to the control and prevention of NCL.

Original language	English
Article number	1210
Journal	Animals
Volume	12
Issue number	9
DOIs	https://doi.org/10.3390/ani12091210
Publication status	Published - 1 May 2022

Keywords

CLN7/MFSD8 gene
Chihuahua dog
carrier rate
neuronal ceroid lipofuscinosis
real-time PCR assay

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10.3390/ani12091210

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title = "Screening and Carrier Rate of Neuronal Ceroid Lipofuscinosis in Chihuahua Dogs in Japan",

abstract = "Neuronal ceroid lipofuscinosis (NCL) is a group of rare lethal neurodegenerative lysosomal storage diseases that occur in a range of dog breeds, including Chihuahuas. Recently, a homozygous single base-pair deletion (c.846delT), which causes a frame shift generating a premature stop codon (p.Phe282Leufs13*) in the canine CLN7/MFSD8 gene, has been identified as a causative mutation for NCL in Chihuahuas. The objective of this study was to determine the frequency of the mutant allele and/or carrier rate of NCL in Chihuahuas in Japan using a newly designed real-time PCR assay. Samples of saliva were randomly collected from 1007 Chihuahua puppies during physical examinations prior to the transportation to pet shops. Screening results revealed a carrier rate of 1.29%, indicating a mutant allele frequency (0.00645) that is considered sufficiently high to warrant measures for the control and prevention of this lethal disease. The genotyping assay designed in this study could make a valuable contribution to the control and prevention of NCL.",

keywords = "CLN7/MFSD8 gene, Chihuahua dog, carrier rate, neuronal ceroid lipofuscinosis, real-time PCR assay",

author = "Shahnaj Pervin and Islam, {Md Shafiqul} and Naomi Tada and Toshihiko Tsutsui and Rahman, {Mohammad Mahbubur} and Akira Yabuki and Tacharina, {Martia Rani} and Rakib, {Tofazzal Md} and Shinichiro Maki and Osamu Yamato",

note = "Publisher Copyright: {\textcopyright} 2022 by the authors. Licensee MDPI, Basel, Switzerland.",

year = "2022",

month = may,

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doi = "10.3390/ani12091210",

language = "English",

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T1 - Screening and Carrier Rate of Neuronal Ceroid Lipofuscinosis in Chihuahua Dogs in Japan

AU - Pervin, Shahnaj

AU - Islam, Md Shafiqul

AU - Tada, Naomi

AU - Tsutsui, Toshihiko

AU - Rahman, Mohammad Mahbubur

AU - Yabuki, Akira

AU - Tacharina, Martia Rani

AU - Rakib, Tofazzal Md

AU - Maki, Shinichiro

AU - Yamato, Osamu

PY - 2022/5/1

Y1 - 2022/5/1

N2 - Neuronal ceroid lipofuscinosis (NCL) is a group of rare lethal neurodegenerative lysosomal storage diseases that occur in a range of dog breeds, including Chihuahuas. Recently, a homozygous single base-pair deletion (c.846delT), which causes a frame shift generating a premature stop codon (p.Phe282Leufs13*) in the canine CLN7/MFSD8 gene, has been identified as a causative mutation for NCL in Chihuahuas. The objective of this study was to determine the frequency of the mutant allele and/or carrier rate of NCL in Chihuahuas in Japan using a newly designed real-time PCR assay. Samples of saliva were randomly collected from 1007 Chihuahua puppies during physical examinations prior to the transportation to pet shops. Screening results revealed a carrier rate of 1.29%, indicating a mutant allele frequency (0.00645) that is considered sufficiently high to warrant measures for the control and prevention of this lethal disease. The genotyping assay designed in this study could make a valuable contribution to the control and prevention of NCL.

AB - Neuronal ceroid lipofuscinosis (NCL) is a group of rare lethal neurodegenerative lysosomal storage diseases that occur in a range of dog breeds, including Chihuahuas. Recently, a homozygous single base-pair deletion (c.846delT), which causes a frame shift generating a premature stop codon (p.Phe282Leufs13*) in the canine CLN7/MFSD8 gene, has been identified as a causative mutation for NCL in Chihuahuas. The objective of this study was to determine the frequency of the mutant allele and/or carrier rate of NCL in Chihuahuas in Japan using a newly designed real-time PCR assay. Samples of saliva were randomly collected from 1007 Chihuahua puppies during physical examinations prior to the transportation to pet shops. Screening results revealed a carrier rate of 1.29%, indicating a mutant allele frequency (0.00645) that is considered sufficiently high to warrant measures for the control and prevention of this lethal disease. The genotyping assay designed in this study could make a valuable contribution to the control and prevention of NCL.

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KW - Chihuahua dog

KW - carrier rate

KW - neuronal ceroid lipofuscinosis

KW - real-time PCR assay

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ER -

Screening and Carrier Rate of Neuronal Ceroid Lipofuscinosis in Chihuahua Dogs in Japan

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