Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C | Zendy

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Author(s) -

Félixe Pelletier,

Stefanie Perrier,

Ferdy Kurniawan Cayami,

Amytice Mirchi,

Stéphan Saïkali,

Luan T. Tran,

Nicole Ulrick,

Kether Guerrero,

Emmanouil Rampakakis,

Rosalina M.L. van Spaendonk,

Sakkubai Naidu,

Daniela Pohl,

William T. Gibson,

Michelle Demos,

Cyril Goizet,

Ingrid Tejera-Martin,

Ana Potic,

Brent L. Fogel,

Bernard Brais,

Michel Sylvain,

Guillaume Sébire,

Charles Marques Lourenço,

Joshua L. Bonkowsky,

Coriene E. CatsmanBerrevoets,

Pedro Soares Pinto,

Sandya Tirupathi,

Petter Strømme,

Ton de Grauw,

Dorota GieruszczakBiałek,

Ingeborg KrägelohMann,

Hanna Mierzewska,

Heike Philippi,

Julia Rankin,

Tahir Atık,

Brenda Banwell,

William Benko,

Astrid Blaschek,

Annette Bley,

Eugen Boltshauser,

Drago Bratkovic,

Klára Brožová,

Icíar Cimas,

Christopher Clough,

Bernard Corenblum,

Argirios Dinopoulos,

Gail Dolan,

Flavio Faletra,

Raymond Fernandez,

Janice M. Fletcher,

María Eugenia García,

Paolo Gasparini,

Janina GburekAugustat,

Dolores González Morón,

Aline I. Hamati,

Inga Harting,

Christoph Hertzberg,

Alan Hill,

Grace M. Hobson,

A. Micheil Innes,

Marcelo Kauffman,

Susan M. Kirwin,

Gerhard Kluger,

Petra Kolditz,

Urania Kotzaeridou,

Roberta La Piana,

Eriskay Liston,

W. McClintock,

Meriel McEntagart,

Fiona McKenzie,

Serge B. Melançon,

Anjum Misbahuddin,

Mohnish Suri,

Fernando Montón,

Sébastien Moutton,

Raymond P. Murphy,

Miriam Nickel,

Hüseyin Önay,

Simona Orcesi,

Ferda Özkınay,

Steffi Patzer,

Hélio Pedro,

Sandra Pekić,

M. Pineda,

Amy Pizzino,

Barbara Plecko,

Bwee Tien PollThe,

Vera Popović,

D. Rating,

MarieFrance Rioux,

N. Rodríguez-Espinosa,

Anne Ronan,

John R. Østergaard,

Elsa Rossignol,

Rocío SánchezCarpintero,

Anna Schossig,

Nesrin Şenbil,

Laura Roos,

Cathy A. Stevens,

Matthis Synofzik,

László Sztriha,

Daniel Tibussek,

Dagmar Timmann,

Davide Tonduti,

Bart P.C. van de Warrenburg,

María Vázquez López,

Sunita Venkateswaran,

Pontus Wasling,

Evangeline Wassmer,

Richard Webster,

Gert Wiegand,

Grace Yoon,

Joost Rotteveel,

Raphael Schiffmann,

Marjo S. van der Knaap,

Adeline Vanderver,

Gabriel Ángel MartosMoreno,

Constantin Polychronakos,

Nicole I. Wolf,

Geneviève Bernard

Publication year - 2020

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/clinem/dgaa700

Subject(s) - leukodystrophy , hypogonadotropic hypogonadism , endocrine system , medicine , endocrinology , short stature , growth hormone deficiency , population , hypopituitarism , pediatrics , hormone , growth hormone , disease , environmental health

4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date.

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