Survival Motor Neuron 유전자 Exon 7과 8 부위가 결실된 제1형 척수성 근위축증 1례

• 영문명: A Case of Exon 7 and 8 Deletion of Survival Motor Neuron Gene in Spinal Muscular Atrophy
• 발행기관: 대한소아신경학회
• 저자명: 김영득(Young Deuk Kim) 김재철(Jae Chul Kim) 황치관(Chi Kwan Hwang) 이건수(Kun Su Lee)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제11권 제1호, 163~167쪽, 전체 5쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 2003.05.30

국문 초록

저자들은 survival motor neuron 유전자의 exon 7, 8 부위가 결실된 척수성 근위축증 환아 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

영문 초록

Spinal muscular atrophy(SMA) is a genetic disorder of the motor neurons that cause muscular weakness and muscular atrophy due to anterior horn cell degeneration. Classic spinal muscular atrophy patient is caused by mutation in the chromosome 5(q11.2-q13.3), and the majority of the patient shows homozygous deletion of the telomeric survival motor neuron(SMN) gene in the chromosome 5. Deletion of exon 7 and 8 of the SMN gene and deletion of exon 4 and 5 of the neuronal apoptosis inhibitory protein(NAIP) are typically observed in SMA patients. The SMN protein plays a role in an essential cell metabolism process, the splicing of pre mRNA in the spliceosomes. We report a 7 month old male with SMA. He showed rapidly aggrdvatial muscular weakness and died at 7 months. His DNA analysis proved deletion of exon 7 and 8 of the telomeric copy of the SMN gene.

키워드

Spinal muscular atrophy Survival motor neuron Chromosome 5 Exon 7 and 8