Mitochondrial Disease Caused by GFM1 Gene Mutation：A Case Report and Literature Review

doi:10.12280/gjszjk.20210554

Abstract

Abstract:

Mitochondrial disease (MD) is a group of multi-systemic lesions caused by the mutations of mitochondrial genes or nuclear genes, which causes the dysfunction of mitochondrial metabolic enzyme, the disorder of ATP synthesis and the deficiency of energy production. The clinical manifestations are diverse and complex, and the prognoses are poor. There is no specific treatment at present. We reported a case of mitochondrial disease caused by GFM1 gene mutation. She was a female child of 1 year, presenting with repeated metabolic acidosis, hyperlactemia, growth and development lag. A homozygous mutation of GFM1 gene, C.688G>A was found. The amino acid was changed to p.Gly230ser (glycine>serine). Combined with literature review, this case of mitochondrial disease was analyzed so as to improve the clinical physicians′ understanding, and to provide some guidance for prenatal diagnosis.

Key words: Mutation, Mitochondrial diseases, Child, Case reports, GFM1 gene

DAI Xiao-juan, ZHENG Li-ling, CHEN Rou, YANG Xiao-yun. Mitochondrial Disease Caused by GFM1 Gene Mutation：A Case Report and Literature Review[J]. Journal of International Reproductive Health/Family Planning, 2022, 41(3): 199-203.

Figures/Tables 2

References 30

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文献	发表时间（年）	例数	基因突变位点、发病年龄、性别	突变类型	结局
Coenen等^[6]	2004	2	c.521A>G、10 d、女 c.521A>G、出生时、男两者为姐弟,父母近亲结婚	均为纯合	均死亡
Antonicka等^[7]	2006	2	c.1068T>C、1872-2_1872-2delAG、均为出生时发病、女两者为姐妹	复合杂合	均死亡
Valente等^[8]	2007	2	C.139c>T, c.1487T>G、7 d、女 C.1016G>A、2个月、女	复合杂合纯合	均死亡
Smits等^[9]	2011	1	c.748C>T、2 d、女父母近亲结婚	纯合	死亡
Balasubramaniam等^[10]	2012	1	C.539delG;C.688G>A、2 d、女	复合杂合	死亡
Galmiche等^[11]	2012	2	c.2011C>T、出生时、男 c.1193c>T、出生时、男父母近亲结婚	均为纯合	均死亡
Brito等^[12]	2015	1	c.1404delA, c.2011C>T、2个月、女	复合杂合	存活
Ravn等^[13]	2015	3	c.130_137delinsAAAAAAAAA（前2例）,出生时,女、男, 两者为姐弟,父母近亲结婚 c.964G>A and c.1655T>G、出生时、女	均为复合杂合	均死亡
尤艺杰等^[14]	2016	1	c.688G>A, c.168delG、出生时、女	复合杂合	死亡
Simon等^[15]	2017	2	c.689+908 G>A、3个月、男 c.748C>T、出生时、男	复合杂合纯合	存活死亡
Barcia等^[16]	2020	9	c.2011C>T/c.1297_1300del、1个月、女 c.2011C>T/c.1404delA、1个月、女 c.958C>G/c.1922C>A、1个月、女 c.248A>T/c.1149_1160del、8个月、男 c.2011C>T/ c.1546T>C、1个月、男 c.2011C>T/c.100C>T、1个月、女 c.1571C>T、出生时、男 c.2011C>T、1个月、女,父母近亲结婚 c.2011C>T/c.1822C>T、1个月、女	复合杂合复合杂合复合杂合复合杂合复合杂合复合杂合纯合纯合复合杂合	存活存活死亡存活存活存活死亡存活存活
沈亚平等^[17]	2020	2	c.688G>A, c.1576C>T、出生时、女 c.688G>A, c.1576C>T、出生时、男两者为姐弟	均为复合杂合	均死亡
You等^[18]	2020	1	c.679G>A, c.1765-1_1765-2del、出生时、男	复合杂合	存活
张梅娟等^[19]	2020	2	c.688G>A, c.1576C>T、出生时、女 c.688G>A, c.1576C>T、出生时、男两者为姐弟	均为复合杂合	均死亡

文献	发表时间（年）	例数	基因突变位点、发病年龄、性别	突变类型	结局
Coenen等^[6]	2004	2	c.521A>G、10 d、女 c.521A>G、出生时、男两者为姐弟,父母近亲结婚	均为纯合	均死亡
Antonicka等^[7]	2006	2	c.1068T>C、1872-2_1872-2delAG、均为出生时发病、女两者为姐妹	复合杂合	均死亡
Valente等^[8]	2007	2	C.139c>T, c.1487T>G、7 d、女 C.1016G>A、2个月、女	复合杂合纯合	均死亡
Smits等^[9]	2011	1	c.748C>T、2 d、女父母近亲结婚	纯合	死亡
Balasubramaniam等^[10]	2012	1	C.539delG;C.688G>A、2 d、女	复合杂合	死亡
Galmiche等^[11]	2012	2	c.2011C>T、出生时、男 c.1193c>T、出生时、男父母近亲结婚	均为纯合	均死亡
Brito等^[12]	2015	1	c.1404delA, c.2011C>T、2个月、女	复合杂合	存活
Ravn等^[13]	2015	3	c.130_137delinsAAAAAAAAA（前2例）,出生时,女、男, 两者为姐弟,父母近亲结婚 c.964G>A and c.1655T>G、出生时、女	均为复合杂合	均死亡
尤艺杰等^[14]	2016	1	c.688G>A, c.168delG、出生时、女	复合杂合	死亡
Simon等^[15]	2017	2	c.689+908 G>A、3个月、男 c.748C>T、出生时、男	复合杂合纯合	存活死亡
Barcia等^[16]	2020	9	c.2011C>T/c.1297_1300del、1个月、女 c.2011C>T/c.1404delA、1个月、女 c.958C>G/c.1922C>A、1个月、女 c.248A>T/c.1149_1160del、8个月、男 c.2011C>T/ c.1546T>C、1个月、男 c.2011C>T/c.100C>T、1个月、女 c.1571C>T、出生时、男 c.2011C>T、1个月、女,父母近亲结婚 c.2011C>T/c.1822C>T、1个月、女	复合杂合复合杂合复合杂合复合杂合复合杂合复合杂合纯合纯合复合杂合	存活存活死亡存活存活存活死亡存活存活
沈亚平等^[17]	2020	2	c.688G>A, c.1576C>T、出生时、女 c.688G>A, c.1576C>T、出生时、男两者为姐弟	均为复合杂合	均死亡
You等^[18]	2020	1	c.679G>A, c.1765-1_1765-2del、出生时、男	复合杂合	存活
张梅娟等^[19]	2020	2	c.688G>A, c.1576C>T、出生时、女 c.688G>A, c.1576C>T、出生时、男两者为姐弟	均为复合杂合	均死亡