Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2020
[Identification of a novel AGPAT2 variant in a Chinese patient with congenital generalized lipodystrophy type 1].
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Wang Yiping, Zhu Yanli, Bai Jinli, Liu Ziqin, Chen Xiaobo
Аннотация
OBJECTIVE: To explore the genetic basis for an infant with congenital generalized lipodystrophy.
METHODS: Peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA. All exons and flanking sequences of the AGPAT2 gene were subjected to Sanger sequencing.
RESULTS: The child was found to harbor compound heterozygous c.792_805delGGAGAACGGGGCCA (p.Gln264Hisfs*208) and c.335C>T (p.P112L) variants in exons 6 and 3 of the AGPAT2 gene, which were respectively inherited from her mother and father. c.792_805delGGAGAACGGGGCCA (p.Gln264Hisfs*208) was previously unreported, while c.335C>T (p.P112L) was known to be pathogenic.
CONCLUSION: The compound heterozygous variants of the AGPAT2 gene probably underlie the disease in this child.
METHODS: Peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA. All exons and flanking sequences of the AGPAT2 gene were subjected to Sanger sequencing.
RESULTS: The child was found to harbor compound heterozygous c.792_805delGGAGAACGGGGCCA (p.Gln264Hisfs*208) and c.335C>T (p.P112L) variants in exons 6 and 3 of the AGPAT2 gene, which were respectively inherited from her mother and father. c.792_805delGGAGAACGGGGCCA (p.Gln264Hisfs*208) was previously unreported, while c.335C>T (p.P112L) was known to be pathogenic.
CONCLUSION: The compound heterozygous variants of the AGPAT2 gene probably underlie the disease in this child.