聯合報UDN, 自由時報，中廣新聞，報導博元婦產科基因晶片試管嬰兒
2015.03.12
自由時報，中廣新聞，報導博元婦產科基因晶片試管嬰兒pgd cmt--產前基因篩檢 生下健康雙胞胎-- 聯合報UDN, 自由時報，中廣新聞，報導博元婦產科基因晶片試管嬰兒pgd cmt--產前基因篩檢 生下健康雙胞胎-- 自由時報，中廣新聞，
聯合報UDN, 自由時報，中廣新聞，報導博元婦產科基因晶片試管嬰兒pgd cmt--產前基因篩檢 生下健康雙胞胎--
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台灣生殖醫學會2012年會論文發表接受通知
受文者： 蔡鋒博 醫師
事 由： 本年度年會論文發表之徵文您的Abstract已被接受為海報
P02
應用胚胎著床前基因診斷克服遺傳性腓骨肌萎縮症第IIE型：世界
Preimplantation genetic diagnosis of Charcot-Marie-Tooth disease Type IIE: Report of the first successful case in the literature
蔡鋒博*1, 陳昭雯1, 林招彰1,張舜評2,3, 馬國欽2, 陳明2,3,4,5
1博元婦產科診所 試管嬰兒中心 2 彰化基督教醫院 基因醫學部 3中興大學 生命科學系 4台灣大學 醫學院婦產部 5東海大學 生命科學系
事 由： 本年度年會論文發表之徵文您的Abstract已被接受為海報
P02
應用胚胎著床前基因診斷克服遺傳性腓骨肌萎縮症第IIE型：世界
Preimplantation genetic diagnosis of Charcot-Marie-Tooth disease Type IIE: Report of the first successful case in the literature
蔡鋒博*1, 陳昭雯1, 林招彰1,張舜評2,3, 馬國欽2, 陳明2,3,4,5
1博元婦產科診所 試管嬰兒中心 2 彰化基督教醫院 基因醫學部 3中興大學 生命科學系 4台灣大學 醫學院婦產部 5東海大學 生命科學系
P02
應用胚胎著床前基因診斷克服遺傳性腓骨肌萎縮症第 IIE 型：世界第一例
Preimplantation genetic diagnosis of Charcot-Marie-Tooth disease Type IIE:
Report of the first successful case in the literature
蔡鋒博*1, 陳昭雯 1, 林招彰 1, 張舜評 2,3, 馬國欽 2, 陳明 2,3,4,5
1 博元婦產科診所 試管嬰兒中心 2 彰化基督教醫院 基因醫學部 3 中興大學
生命科學系 4 台灣大學 醫學院婦產部 5 東海大學 生命科學系
Feng-Po Tsai1, Chao-Wen Chen1, Chao-Chang Lin1, Shun-Ping Chang2,3,
Gwo-Chin Ma2, Ming Chen2,3,4,5
1 Poyuan Women Clinic, IVF centre, Changhua, 2 Department of Genomic Medicine,
Changhua Christian Hospital, Changhua, 3 Department of Life Sciences, National
Chung-Hsing University, Taichung, 4 Department of Obstetrics and Gynecology,
National Taiwan University, Taipei, 5 Department of Life Sciences, Tunghai
University, Taichung,
Introduction: Charcot–Marie–Tooth disease (CMT), also known as
Charcot–Marie–Tooth neuropathy, hereditary motor and sensory neuropathy (HMSN)
and peroneal muscular atrophy (PMA) — is a genetically and clinically
heterogeneous group of inherited disorders of the peripheral nervous system
characterised by progressive loss of muscle tissue and touch sensation across various
parts of the body. It is one of the most common inherited neurological disorders
worldwide, affecting approximately 1 in 2,500 people. CMT is caused by mutations
that cause defects in neuronal proteins. Nerve signals are conducted by an axon with a
myelin sheath wrapped around it. Most mutations in CMT affect the myelin sheath,
but some affect the axon.CMT is divided into the primary demyelinating neuropathies (CMT1, CMT3, and CMT4) and the primary axonal neuropathies (CMT2), with
frequent overlap. Symptoms of CMT usually begin in late childhood or early
adulthood. Some people do not experience symptoms until their early thirties or
forties. Usually, the initial symptom is foot drop onset early in the course of the
disease. This can also cause claw toe, where the toes are always curled. Wasting of
muscle tissue of the lower parts of the legs may give rise to a "stork leg" or "inverted
bottle" appearance. Weakness in the hands and forearms occurs in many people later
in life as the disease progresses. Loss of touch sensation in the feet, ankles and legs,
as well as in the hands, wrists and arms is characteristic in various types of the disease.
Early and late onset forms occur with 'on and off' painful spasmodic muscular
contractions that can be disabling when the disease activates. High arched feet (pes
cavus) are classically associated with the disorder. Sensory and proprioceptive nerves
in the hands and feet are often damaged, while pain nerves are left intact. Overuse of
an affected hand or limb can activate symptoms including numbness, spasm, and
painful cramping. CMT2E is transmitted in an autosomal dominant manner and maps
to chromosome 8p21. We presented a couple with CMT2E seeking for preimplantation genetic diagnosis. Material & methods: Parental genetic analysis showed the paternal heterozygous
mutation was c.23C>G (p.P8R) in the exon 1 of NEFL gene. We developed and
evaluated an in-house duplex-nested ARMS-qPCR, and to compare it to the direct
sequencing, considered to be the gold standard. The optimized protocol was then
applied clinically to detect the disease-causing mutations in embryos acquired after
ovarian stimulation. 7 fertilized oocytes were developed into embryos useful for
biopsy. 4 unaffected embryos were transferred, resulting in a triplet pregnancy.
Discussion: This is the first successful case of CMT 2E-affected family usingPGD to
prevent the transmission of the disease-carrying gene. We wish this experience will be
helpful for other families who also suffered from other hereditary diseases with
known gene loci.
應用胚胎著床前基因診斷克服遺傳性腓骨肌萎縮症第 IIE 型：世界第一例
Preimplantation genetic diagnosis of Charcot-Marie-Tooth disease Type IIE:
Report of the first successful case in the literature
蔡鋒博*1, 陳昭雯 1, 林招彰 1, 張舜評 2,3, 馬國欽 2, 陳明 2,3,4,5
1 博元婦產科診所 試管嬰兒中心 2 彰化基督教醫院 基因醫學部 3 中興大學
生命科學系 4 台灣大學 醫學院婦產部 5 東海大學 生命科學系
Feng-Po Tsai1, Chao-Wen Chen1, Chao-Chang Lin1, Shun-Ping Chang2,3,
Gwo-Chin Ma2, Ming Chen2,3,4,5
1 Poyuan Women Clinic, IVF centre, Changhua, 2 Department of Genomic Medicine,
Changhua Christian Hospital, Changhua, 3 Department of Life Sciences, National
Chung-Hsing University, Taichung, 4 Department of Obstetrics and Gynecology,
National Taiwan University, Taipei, 5 Department of Life Sciences, Tunghai
University, Taichung,
Introduction: Charcot–Marie–Tooth disease (CMT), also known as
Charcot–Marie–Tooth neuropathy, hereditary motor and sensory neuropathy (HMSN)
and peroneal muscular atrophy (PMA) — is a genetically and clinically
heterogeneous group of inherited disorders of the peripheral nervous system
characterised by progressive loss of muscle tissue and touch sensation across various
parts of the body. It is one of the most common inherited neurological disorders
worldwide, affecting approximately 1 in 2,500 people. CMT is caused by mutations
that cause defects in neuronal proteins. Nerve signals are conducted by an axon with a
myelin sheath wrapped around it. Most mutations in CMT affect the myelin sheath,
but some affect the axon.CMT is divided into the primary demyelinating neuropathies (CMT1, CMT3, and CMT4) and the primary axonal neuropathies (CMT2), with
frequent overlap. Symptoms of CMT usually begin in late childhood or early
adulthood. Some people do not experience symptoms until their early thirties or
forties. Usually, the initial symptom is foot drop onset early in the course of the
disease. This can also cause claw toe, where the toes are always curled. Wasting of
muscle tissue of the lower parts of the legs may give rise to a "stork leg" or "inverted
bottle" appearance. Weakness in the hands and forearms occurs in many people later
in life as the disease progresses. Loss of touch sensation in the feet, ankles and legs,
as well as in the hands, wrists and arms is characteristic in various types of the disease.
Early and late onset forms occur with 'on and off' painful spasmodic muscular
contractions that can be disabling when the disease activates. High arched feet (pes
cavus) are classically associated with the disorder. Sensory and proprioceptive nerves
in the hands and feet are often damaged, while pain nerves are left intact. Overuse of
an affected hand or limb can activate symptoms including numbness, spasm, and
painful cramping. CMT2E is transmitted in an autosomal dominant manner and maps
to chromosome 8p21. We presented a couple with CMT2E seeking for preimplantation genetic diagnosis. Material & methods: Parental genetic analysis showed the paternal heterozygous
mutation was c.23C>G (p.P8R) in the exon 1 of NEFL gene. We developed and
evaluated an in-house duplex-nested ARMS-qPCR, and to compare it to the direct
sequencing, considered to be the gold standard. The optimized protocol was then
applied clinically to detect the disease-causing mutations in embryos acquired after
ovarian stimulation. 7 fertilized oocytes were developed into embryos useful for
biopsy. 4 unaffected embryos were transferred, resulting in a triplet pregnancy.
Discussion: This is the first successful case of CMT 2E-affected family usingPGD to
prevent the transmission of the disease-carrying gene. We wish this experience will be
helpful for other families who also suffered from other hereditary diseases with
known gene loci.
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