Novel Exosc9 Variants Cause Pontocerebellar Hypoplasia Type 1D With Spinal Motor Neuronopathy and Cerebellar Atrophy

Novel Exosc9 Variants Cause Pontocerebellar Hypoplasia Type 1D With Spinal Motor Neuronopathy and Cerebellar Atrophy Publisher Pubmed

Sakamoto M^{1, 2} ; Iwama K^{1, 2} ; Sekiguchi F¹ ; Mashimo H³ ; Kumada S³ ; Ishigaki K⁴ ; Okamoto N⁵ ; Behnam M⁶ ; Ghadami M^{7, 8} ; Koshimizu E¹ ; Miyatake S^{1, 9} ; Mitsuhashi S¹ ; Mizuguchi T¹ ; Takata A¹ Show All Authors

Sakamoto M^{1, 2}
Iwama K^{1, 2}
Sekiguchi F¹
Mashimo H³
Kumada S³
Ishigaki K⁴
Okamoto N⁵
Behnam M⁶
Ghadami M^{7, 8}
Koshimizu E¹
Miyatake S^{1, 9}
Mitsuhashi S¹
Mizuguchi T¹
Takata A¹
Saitsu H¹⁰
Miyake N¹
Matsumoto N¹

Show Affiliations

1. Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan
2. Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan
3. Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan
4. Department of Pediatrics, Tokyo Womenâ€™s Medical University, Tokyo, Japan
5. Department of Medical Genetics, Osaka Womenâ€™s and Childrenâ€™s Hospital, Osaka, Japan
6. Medical Genetics Research Center of Genome, Isfahan University of Medical Sciences, Isfahan, Iran
7. Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran
8. Cardiac Primary Research Center, Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran
9. Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan
10. Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan

Source: Journal of Human Genetics Published:2021

Abstract

Pontocerebellar hypoplasia (PCH) is currently classified into 13 subgroups and many gene variants associated with PCH have been identified by next generation sequencing. PCH type 1 is a rare heterogeneous neurodegenerative disorder. The clinical presentation includes early-onset severe developmental delay, progressive motor neuronopathy, and cerebellar and pontine atrophy. Recently two variants in the EXOSC9 gene (MIM: 606180), NM_001034194.1: c.41T>C (p.Leu14Pro) and c.481C>T (p.Arg161*) were identified in four unrelated patients with PCH type 1D (PCH1D) (MIM: 618065). EXOSC9 encodes a component of the exosome complex, which is essential for correct processing and degradation of RNA. We report here two PCH1D families with biallelic EXOSC9 variants: c.239T>G (p.Leu80Arg) and c.484dupA (p.Arg162Lysfs*3) in one family and c.151G>C (p.Gly51Arg) in the other family. Although the patients studied here showed similar clinical features as previously described for PCH1D, relatively greater intellectual development (although still highly restricted) and normal pontine structure were recognized. Our findings expand the clinical consequences of biallelic EXOSC9 variants. © 2020, The Author(s), under exclusive licence to The Japan Society of Human Genetics.

Style	Citing Format
MLA	Sakamoto M, et al.. "Novel Exosc9 Variants Cause Pontocerebellar Hypoplasia Type 1D With Spinal Motor Neuronopathy and Cerebellar Atrophy." Journal of Human Genetics, vol. 66, no. 4, 2021, pp. 401-407.
APA	Sakamoto M, Iwama K, Sekiguchi F, Mashimo H, Kumada S, Ishigaki K, Okamoto N, Behnam M, Ghadami M, Koshimizu E, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Saitsu H, Miyake N, Matsumoto N (2021). Novel Exosc9 Variants Cause Pontocerebellar Hypoplasia Type 1D With Spinal Motor Neuronopathy and Cerebellar Atrophy. Journal of Human Genetics, 66(4), 401-407.
Chicago	Sakamoto M, Iwama K, Sekiguchi F, Mashimo H, Kumada S, Ishigaki K, Okamoto N, et al.. "Novel Exosc9 Variants Cause Pontocerebellar Hypoplasia Type 1D With Spinal Motor Neuronopathy and Cerebellar Atrophy." Journal of Human Genetics 66, no. 4 (2021): 401-407.
Harvard	Sakamoto M et al. (2021) 'Novel Exosc9 Variants Cause Pontocerebellar Hypoplasia Type 1D With Spinal Motor Neuronopathy and Cerebellar Atrophy', Journal of Human Genetics, 66(4), pp. 401-407.
Vancouver	Sakamoto M, Iwama K, Sekiguchi F, Mashimo H, Kumada S, Ishigaki K, et al.. Novel Exosc9 Variants Cause Pontocerebellar Hypoplasia Type 1D With Spinal Motor Neuronopathy and Cerebellar Atrophy. Journal of Human Genetics. 2021;66(4):401-407.
BibTex	@article{ author = {Sakamoto M and Iwama K and Sekiguchi F and Mashimo H and Kumada S and Ishigaki K and Okamoto N and Behnam M and Ghadami M and Koshimizu E and Miyatake S and Mitsuhashi S and Mizuguchi T and Takata A and Saitsu H and Miyake N and Matsumoto N}, title = {Novel Exosc9 Variants Cause Pontocerebellar Hypoplasia Type 1D With Spinal Motor Neuronopathy and Cerebellar Atrophy}, journal = {Journal of Human Genetics}, volume = {66}, number = {4}, pages = {401-407}, year = {2021} }
RIS	TY - JOUR AU - Sakamoto M AU - Iwama K AU - Sekiguchi F AU - Mashimo H AU - Kumada S AU - Ishigaki K AU - Okamoto N AU - Behnam M AU - Ghadami M AU - Koshimizu E AU - Miyatake S AU - Mitsuhashi S AU - Mizuguchi T AU - Takata A AU - Saitsu H AU - Miyake N AU - Matsumoto N TI - Novel Exosc9 Variants Cause Pontocerebellar Hypoplasia Type 1D With Spinal Motor Neuronopathy and Cerebellar Atrophy JO - Journal of Human Genetics VL - 66 IS - 4 SP - 401 EP - 407 PY - 2021 ER -

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