Clinical characteristics and genetic analysis of a family with maternally inherited diabetes and deafness

doi:10.3877/cma.j.issn.2095-655X.2021.01.005

Abstract

Abstract:

Objective

To explore the clinical characteristics and gene mutations of a family with maternally inherited diabetes and deafness (MIDD).

Methods

A diabetic patient with a family history of MIDD admitted to the Department of Endocrinology and Metabolic Diseases of the First Affiliated Hospital of Anhui Medical University on April 20, 2020 was enrolled. The peripheral blood specimens of the 4 family members were collected, sent for examination and subjected to polymerase chain reaction was used for high-sensitivity sequencing analysis of mitochondrial DNA (mtDNA) to determine whether there were mtDNA mutations.

Results

Among the 4 family members involved in the test, 2 patients had MIDD, 1 member had hearing loss but did not have diabetes, and 1 member had no hearing loss or abnormal blood sugar. And the 4 family members had mtDNA 3243 A>G mutation, of which 3 had mtDNA 10398 A>G mutation and mtDNA 15043 G>A mutation.

Conclusions

The clinical manifestations of MIDD in this family are quite typical, which are consistent with the characteristics of early onset, thin body type, neurological deafness and maternal inheritance. The mtDNA 3243 A>G mutation is the main cause of MIDD in this family.

Key words: Maternally inherited diabetes and deafness, Genes, mitochondrial, Mutation

Qian Xu, Shiqi Zhang, Li Xia, Qiu Zhang, Pingping Zheng, Datong Deng. Clinical characteristics and genetic analysis of a family with maternally inherited diabetes and deafness[J]. Chinese Journal of Diagnostics(Electronic Edition), 2021, 09(01): 17-21.

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Figures/Tables 6

References 20

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基因	位置	参考序列	变异序列	样本突变率(%)
TRNL1，tRNA	3243	A	G	11.31
CYTB	15141	T	C	1.10
ND3	10086	A	G	99.75
ND3	10398	A	G	99.78
CYTB	15043	G	A	99.91

基因	位置	参考序列	变异序列	样本突变率(%)
TRNL1，tRNA	3243	A	G	11.31
CYTB	15141	T	C	1.10
ND3	10086	A	G	99.75
ND3	10398	A	G	99.78
CYTB	15043	G	A	99.91

基因	位置	参考序列	变异序列	样本突变率(%)
TRNL1，tRNA	3243	A	G	28.44
ND3	10086	A	G	99.74
ND3	10398	A	G	99.73
CYTB	15043	G	A	99.90

基因	位置	参考序列	变异序列	样本突变率(%)
TRNL1，tRNA	3243	A	G	28.44
ND3	10086	A	G	99.74
ND3	10398	A	G	99.73
CYTB	15043	G	A	99.90

基因	位置	参考序列	变异序列	样本突变率(%)
TRNL1，tRNA	3243	A	G	5.63
ND3	10086	A	G	99.63
ND3	10398	A	G	99.71
CYTB	15043	G	A	99.91

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