Dataset Information

A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment.

ABSTRACT:

Case description

A 10-month-old castrated male domestic longhair cat was evaluated for increasing frequency of episodic limb rigidity.

Clinical findings

The cat presented for falling over and lying recumbent with its limbs in extension for several seconds when startled or excited. Upon examination, the cat had hypertrophied musculature, episodes of facial spasm, and a short-strided, stiff gait.

Diagnostics

Electromyography (EMG) identified spontaneous discharges that waxed and waned in amplitude and frequency, consistent with myotonic discharges. A high impact 8-base pair (bp) deletion across the end of exon 3 and intron 3 of the chloride voltage-gated channel 1 (CLCN1) gene was identified using whole genome sequencing.

Treatment and outcome

Phenytoin treatment was initiated at 3 mg/kg po q24 h and resulted in long-term improvement.

Clinical relevance

This novel mutation within the CLCN1 gene is a cause of myotonia congenita in cats and we report for the first time its successful treatment.

SUBMITTER: Woelfel C

PROVIDER: S-EPMC9308434 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature

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Publications

A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment.

Woelfel Christian C Meurs Kathryn K Friedenberg Steven S DeBruyne Nicole N Olby Natasha J NJ

Journal of veterinary internal medicine 20220711 4

<h4>Case description</h4>A 10-month-old castrated male domestic longhair cat was evaluated for increasing frequency of episodic limb rigidity.<h4>Clinical findings</h4>The cat presented for falling over and lying recumbent with its limbs in extension for several seconds when startled or excited. Upon examination, the cat had hypertrophied musculature, episodes of facial spasm, and a short-strided, stiff gait.<h4>Diagnostics</h4>Electromyography (EMG) identified spontaneous discharges that waxed ...[more]

PMID: 35815860

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Project description:Background: CLCN1-related myotonia congenita (MC) is one of the most common forms of non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. However, there is limited data of clinical and molecular spectrum of MC patients in China. Patients and Methods: Five patients with myotonia congenita due to mutations in CLCN1 gene were enrolled, which were identified through trio-whole-exome sequencing or panel-based next-generation sequencing test. The clinical presentation, laboratory data, electrophysiological tests, muscular pathology feature, and genetic results were collected and reviewed. We also searched all previously reported cases of MC patients with genetic diagnosis in Chinese populations, and their data were reviewed. Results: The median onset age of five patients was 3.0 years old, ranging from 1.0 to 5.0 years old, while the median age of admit was 5.0 years old, ranging from 3.5 to 8.8 years old. Five patients complained of muscle stiffness when rising from chairs or starting to climb stairs (5/5, 100.0%), four patients complained of delayed relaxation of their hands after forceful grip (4/5, 80.0%), all of which improved with exercise (warm-up phenomenon) (5/5, 100%). Electromyogram was conducted in five patients, which all revealed myotonic change (100%). Genetic tests revealed nine potential disease-causing variants in CLCN1 gene, including two novel variants: c.962T>A (p.V321E) and c.1250A>T (p.E417V). Literature review showed that 43 MC Chinese patients with genetic diagnosis have been reported till now (including our five patients). Forty-seven variants in CLCN1 gene were found, which consisted of 33 missense variants, 6 nonsense variants, 5 frame-shift variants, and 3 splicing variants. Variants in exon 8, 15, 12, and 16 were most prevalent, while the most common variants were c.892G>A (p.A298T) (n = 9), c.139C>T (p.R47W) (n = 3), c.1205C>T(p.A402V) (n = 3), c.1657A>T (p.I553F) (n = 3), c.1679T>C (p.M560T) (n = 3), c.350A>G (p.D117G) (n = 2), c.762C>G (p.C254W) (n = 2), c.782A>G (P.Y261C) (n = 2), and c.1277C>A (p.T426N) (n = 2). Conclusion: Our results reported five CLCN1-related MC patients, which expanded the clinical and genetic spectrum of MC patients in China. Based on literature review, 43MC Chinese patients with genetic diagnosis have been reported till now, and variants in exon eight were most prevalent in Chinese MC patients while c.892G>A (p.A298T) was probably a founder mutation.

Dataset Information

A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment.

Case description

Clinical findings

Diagnostics

Treatment and outcome

Clinical relevance

Publications

A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment.

Similar Datasets

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