A Homozygous Nop14 Variant Is Likely to Cause Recurrent Pregnancy Loss

A Homozygous Nop14 Variant Is Likely to Cause Recurrent Pregnancy Loss Publisher Pubmed

Suzuki T^{1, 2} ; Behnam M³ ; Ronasian F³ ; Salehi M⁴ ; Shiina M⁵ ; Koshimizu E¹ ; Fujita A¹ ; Sekiguchi F^{1, 6} ; Miyatake S^{1, 7} ; Mizuguchi T¹ ; Nakashima M¹ ; Ogata K⁵ ; Takeda S² ; Matsumoto N¹ Show All Authors

Suzuki T^{1, 2}
Behnam M³
Ronasian F³
Salehi M⁴
Shiina M⁵
Koshimizu E¹
Fujita A¹
Sekiguchi F^{1, 6}
Miyatake S^{1, 7}
Mizuguchi T¹
Nakashima M¹
Ogata K⁵
Takeda S²
Matsumoto N¹
Miyake N¹

Source: Journal of Human Genetics Published:2018

Abstract

Recurrent pregnancy loss is newly defined as more than two consecutive miscarriages. Recurrent pregnancy loss occurs in <5% of total pregnancies. The cause in approximately 40-60% of recurrent pregnancy loss cases remains elusive and must be determined. We investigated two unrelated Iranian consanguineous families with recurrent pregnancy loss. We performed exome sequencing using DNA from a miscarriage tissue and identified a homozygous NOP14 missense variant (c.[136C>G];[136C>G]) in both families. NOP14 is an evolutionally conserved protein among eukaryotes and is required for 18S rRNA processing and 40S ribosome biogenesis. Interestingly, in zebrafish, homozygous mutation of nop14 (possibly loss of function) resulting from retrovirus-mediated insertional mutagenesis led to embryonic lethality at 5 days after fertilization, mimicking early pregnancy loss in humans. Similarly, it is known that the nop14-null yeast is inviable. These data suggest that the homozygous NOP14 mutation is likely to cause recurrent pregnancy loss. Furthermore, this study shows that exome sequencing is very useful to determine the etiology of unsolved recurrent pregnancy loss. © 2018 The Author(s) [YEAR], under exclusive licence to The Japan Society of Human Genetics.

Style	Citing Format
MLA	Suzuki T, et al.. "A Homozygous Nop14 Variant Is Likely to Cause Recurrent Pregnancy Loss." Journal of Human Genetics, vol. 63, no. 4, 2018, pp. 425-430.
APA	Suzuki T, Behnam M, Ronasian F, Salehi M, Shiina M, Koshimizu E, Fujita A, Sekiguchi F, Miyatake S, Mizuguchi T, Nakashima M, Ogata K, Takeda S, Matsumoto N, Miyake N (2018). A Homozygous Nop14 Variant Is Likely to Cause Recurrent Pregnancy Loss. Journal of Human Genetics, 63(4), 425-430.
Chicago	Suzuki T, Behnam M, Ronasian F, Salehi M, Shiina M, Koshimizu E, Fujita A, et al.. "A Homozygous Nop14 Variant Is Likely to Cause Recurrent Pregnancy Loss." Journal of Human Genetics 63, no. 4 (2018): 425-430.
Harvard	Suzuki T et al. (2018) 'A Homozygous Nop14 Variant Is Likely to Cause Recurrent Pregnancy Loss', Journal of Human Genetics, 63(4), pp. 425-430.
Vancouver	Suzuki T, Behnam M, Ronasian F, Salehi M, Shiina M, Koshimizu E, et al.. A Homozygous Nop14 Variant Is Likely to Cause Recurrent Pregnancy Loss. Journal of Human Genetics. 2018;63(4):425-430.
BibTex	@article{ author = {Suzuki T and Behnam M and Ronasian F and Salehi M and Shiina M and Koshimizu E and Fujita A and Sekiguchi F and Miyatake S and Mizuguchi T and Nakashima M and Ogata K and Takeda S and Matsumoto N and Miyake N}, title = {A Homozygous Nop14 Variant Is Likely to Cause Recurrent Pregnancy Loss}, journal = {Journal of Human Genetics}, volume = {63}, number = {4}, pages = {425-430}, year = {2018} }
RIS	TY - JOUR AU - Suzuki T AU - Behnam M AU - Ronasian F AU - Salehi M AU - Shiina M AU - Koshimizu E AU - Fujita A AU - Sekiguchi F AU - Miyatake S AU - Mizuguchi T AU - Nakashima M AU - Ogata K AU - Takeda S AU - Matsumoto N AU - Miyake N TI - A Homozygous Nop14 Variant Is Likely to Cause Recurrent Pregnancy Loss JO - Journal of Human Genetics VL - 63 IS - 4 SP - 425 EP - 430 PY - 2018 ER -

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