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Clinical and Experimental Obstetrics & Gynecology  2020, Vol. 47 Issue (4): 496-499    DOI: 10.31083/j.ceog.2020.04.3433
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Rapid diagnostic testing of a neonate in a family with hypertrophic cardiomyopathy
H. Ueda1, T. Miyamoto1, *(), Y. Tsurusaki2, G. Minase1, N. Matsumoto2, K. Sengoku1
1Department of Obstetrics and Gynecology, Asahikawa Medical University, Asahikawa 0788510, Japan
2Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan
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Abstract  

Familial hypertrophic cardiomyopathy (HCM) is a common but severe genetic disease. A pregnant woman with familial HCM was referred to our hospital as both the couple and their families were concerned that the baby would later develop HCM. Therefore, we determined the risk of HCM in the neonate. Using whole-exome sequencing, mutational analysis was performed on the patient, her family members (including her father, mother, sister, and husband), and the neonate. Sanger sequencing was also performed. We found that HCM in this family was caused by a mutation in the cardiac heavy chain β-myosin (MYH7) gene. Encouragingly, the neonate did not carry this MYH7 mutation as the father was also negative. We were able to determine that the neonate had no risk of familial HCM. Obstetricians should consider genetic screening if a pregnant woman has a severe risk of such familial complications. Content: We demonstrated absence of familial HCM in a neonate and suggest appropriate genetic screening in pregnant women with familial complications.

Key words:  Early diagnosis      Hypertrophic cardiomyopathy      Mutation      MYH7      Whole-exome sequencing     
Submitted:  16 September 2015      Accepted:  04 November 2015      Published:  15 August 2020     
Fund: 25462547/Japan Society for the Promotion of Science;26462469/Japan Society for the Promotion of Science;24249019/Japan Society for the Promotion of Science;12024421/Ministry of Education, Culture, Sports, Science, and Technology of Japan;11105137/Ministry of Health, Labor and Welfare of Japan, the Strategic Research Program for Brain Sciences
*Corresponding Author(s):  T. Miyamoto     E-mail:  toshim@asahikawa-med.ac.jp

Cite this article: 

H. Ueda, T. Miyamoto, Y. Tsurusaki, G. Minase, N. Matsumoto, K. Sengoku. Rapid diagnostic testing of a neonate in a family with hypertrophic cardiomyopathy. Clinical and Experimental Obstetrics & Gynecology, 2020, 47(4): 496-499.

URL: 

https://ceog.imrpress.com/EN/10.31083/j.ceog.2020.04.3433     OR     https://ceog.imrpress.com/EN/Y2020/V47/I4/496

Figure 1.  — Genetic analysis of the MYH7 mutation in the family. (a) The family pedigree. (b) Electropherograms of the MYH7 mutation. MT, mutant allele; WT, wild type allele.

Table 1  — Three programs (SIFT, PolyPhen-2, and Mutation Taster) predicted that the c.2770G>A mutation in MYH7 would influence protein function. This mutation was first reported in 1992 [11].
Gene Mutation SIFT PolyPhen-2 Mutation Taster
MYH7 c.2770G>A 0.00 0.995 Disease-causing
(NM_000257) p.E924K (deleterious) (probablydamaging)
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