A novel likely pathogenic variant in the H1-4 gene c.139G > C p.(Ala47Pro) associated with Rahman syndrome: a clinical report

被引：1

作者：

Gonzalez-Tarancon, R. ^{[1
]}

Salvador-Ruperez, E. ^{[1
]}

Goni-Ros, N. ^{[1
]}

Alvarez, S. Izquierdo ^{[1
]}

Sanchez-Navarro, I ^{[2
]}

Martinez Garcia, M. ^{[2
]}

Pena Segura, J. L. ^{[3
]}

Lopez Lafuente, A. ^{[3
]}

机构：

[1] Hosp Univ Miguel Servet, Dept Clin Biochem, C Padre Arrupe S-N,Planta 3a, Zaragoza 50009, Spain

[2] NIM Genet, Madrid, Spain

[3] Hosp Univ Miguel Servet, Neuropediat Unit, Dept Pediat, Zaragoza, Spain

来源：

EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS | 2022年 / 23卷 / 01期

关键词：

RMNS; H1-4; HIST1H1E; c.139G > C; p.(Ala47Pro); OVERGROWTH; MUTATIONS;

D O I：

10.1186/s43042-022-00265-1

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background Rahman syndrome (RMNS) is a rare genetic disorder inherited in an autosomal dominant manner caused by a de novo mutation in H1-4 gene. Since there are few cases described in the literature, the prevalence of the syndrome is unknown. RMNS should be suspected in individuals presenting mild to severe intellectual disability associated with behavioural problems. Case presentation A novel variant in the H1-4 gene: c.139G > C p.(Ala47Pro), classified as likely pathogenic, was identified in a patient with a phenotype compatible with RMNS. Clubfoot and obesity were described in our patient and should be considered in future reviews of the disease. Conclusions This case is added to the reduced number of publications previously reported regarding RMNS and contributes to understanding the genetic characteristics, clinical features and diagnosis of this syndrome.

引用

页数：5

共 13 条

[1]

Burkardt D., 1993, GeneReviews()

[2] HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals [J].

Burkardt, Deepika D'Cunha ;

Zachariou, Anna ;

Loveday, Chey ;

Allen, Clare L. ;

Amor, David J. ;

Ardissone, Anna ;

Banka, Siddharth ;

Bourgois, Alexia ;

Coubes, Christine ;

Cytrynbaum, Cheryl ;

Faivre, Laurence ;

Marion, Gerard ;

Horton, Rachel ;

Kotzot, Dieter ;

Lay-Son, Guillermo ;

Lees, Melissa ;

Low, Karen ;

Luk, Ho-Ming ;

Mark, Paul ;

McConkie-Rosell, Allyn ;

McDonald, Marie ;

Pappas, John ;

Phillipe, Christophe ;

Shears, Deborah ;

Skotko, Brian ;

Stewart, Fiona ;

Stewart, Helen ;

Temple, I. Karen. ;

Mau-Them, Frederic T. ;

Verdugo, Ricardo A. ;

Weksberg, Rosanna ;

Zarate, Yuri A. ;

Graham, John M. ;

Tatton-Brown, Katrina .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (10) :2049-2055

[3] Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature [J].

Ciolfi, Andrea ;

Aref-Eshghi, Erfan ;

Pizzi, Simone ;

Pedace, Lucia ;

Miele, Evelina ;

Kerkhof, Jennifer ;

Flex, Elisabetta ;

Martinelli, Simone ;

Radio, Francesca Clementina ;

Ruivenkamp, Claudia A. L. ;

Santen, Gijs W. E. ;

Bijlsma, Emilia ;

Barge-Schaapveld, Daniela ;

Ounap, Katrin ;

Siu, Victoria Mok ;

Kooy, R. Frank ;

Dallapiccola, Bruno ;

Sadikovic, Bekim ;

Tartaglia, Marco .

CLINICAL EPIGENETICS, 2020, 12 (01)

[4] Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review [J].

Duffney, Lara J. ;

Valdez, Purnima ;

Tremblay, Martine W. ;

Cao, Xinyu ;

Montgomery, Sarah ;

McConkie-Rosell, Allyn ;

Jiang, Yong-hui .

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2018, 177 (04) :426-433

[5] Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging [J].

Flex, Elisabetta ;

Martinelli, Simone ;

Van Dijck, Anke ;

Ciolfi, Andrea ;

Cecchetti, Serena ;

Coluzzi, Elisa ;

Pannone, Luca ;

Andreoli, Cristina ;

Radio, Francesca Clementina ;

Pizzi, Simone ;

Carpentieri, Giovanna ;

Bruselles, Alessandro ;

Catanzaro, Giuseppina ;

Pedace, Lucia ;

Miele, Evelina ;

Carcarino, Elena ;

Ge, Xiaoyan ;

Chijiwa, Chieko ;

Lewis, Me Suzanne ;

Meuwissen, Marije ;

Kenis, Sandra ;

Van der Aa, Nathalie ;

Larson, Austin ;

Brown, Kathleen ;

Wasserstein, Melissa P. ;

Skotko, Brian G. ;

Begtrup, Amber ;

Person, Richard ;

Karayiorgou, Maria ;

Roos, J. Louw ;

Van Gassen, Koen L. ;

Koopmans, Marije ;

Bijlsma, Emilia K. ;

Santen, Gijs W. E. ;

Barge-Schaapveld, Daniela Q. C. M. ;

Ruivenkamp, Claudia A. L. ;

Hoffer, Mariette J., V ;

Lalani, Seema R. ;

Streff, Haley ;

Craigen, William J. ;

Graham, Brett H. ;

van den Elzen, Annette P. M. ;

Kamphuis, Daan J. ;

Ounap, Katrin ;

Reinson, Karit ;

Pajusalu, Sander ;

Wojcik, Monica H. ;

Viberti, Clara ;

Di Gaetano, Cornelia ;

Bertini, Enrico .

AMERICAN JOURNAL OF HUMAN GENETICS, 2019, 105 (03) :493-508

[6]

Kniffin C, RAHMAN SYNDROME

[7]

National Center for Biotechnology Information (NCBI). U.S. National Library of Medicine, 2020, CLINVAR DATABASE

[8] CADD: predicting the deleteriousness of variants throughout the human genome [J].

Rentzsch, Philipp ;

Witten, Daniela ;

Cooper, Gregory M. ;

Shendure, Jay ;

Kircher, Martin .

NUCLEIC ACIDS RESEARCH, 2019, 47 (D1) :D886-D894

[9] Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology [J].

Richards, Sue ;

Aziz, Nazneen ;

Bale, Sherri ;

Bick, David ;

Das, Soma ;

Gastier-Foster, Julie ;

Grody, Wayne W. ;

Hegde, Madhuri ;

Lyon, Elaine ;

Spector, Elaine ;

Voelkerding, Karl ;

Rehm, Heidi L. .

GENETICS IN MEDICINE, 2015, 17 (05) :405-424

[10] Growth pattern of Rahman syndrome [J].

Takenouchi, Toshiki ;

Uehara, Tomoko ;

Kosaki, Kenjiro ;

Mizuno, Seiji .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (03) :712-714

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A novel likely pathogenic variant in the H1-4 gene c.139G &gt; C p.(Ala47Pro) associated with Rahman syndrome: a clinical report

A novel likely pathogenic variant in the H1-4 gene c.139G > C p.(Ala47Pro) associated with Rahman syndrome: a clinical report