Draft:Paulo Otto

{{AFC submission|d|prof|u=Allyssonallan|ns=118|decliner=ToadetteEdit|declinets=20250527191154|ts=20250527190326}}

{{Short description|Brazilian biologist and medical doctor}}

{{Draft topics|biography|south-america|stem}}

{{AfC topic|blp}}

{{Infobox medical person

| name = Paulo Otto

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| birth_name = Paulo Alberto Otto

| birth_date = {{nowrap|{{birth date|year=1944|month=06|day=16}}}}

| birth_place = Sao Paulo, Brazil

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| nationality = Brazilian

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| education = BA in Natural History, M.D., Msc and Ph.D. in Genetics

| occupation = Geneticist

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| known_for = Santos Syndrome, Academic books, Population genetics

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| profession = Medical Geneticist

| field = Population genetics

| work_institutions = University of Sao Paulo

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| research_field = Genetics

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Paulo Otto (born June 16, 1944, Rio de Janeiro, Brazil) is a Brazilian medical geneticist and Retired Full Professor, reference in human, medical, and population genetics. He is recognized for his academic contributions, new syndromes discovery, and teaching activities at the Institute of Biosciences of the University of São Paulo (USP).

Otto, together with Professor John Marius Opitz, was the first to describe Santos syndrome (OMIM [https://omim.org/entry/613005 #613005]) caused by a homozygous mutation in WNT7A, discovered by researcher Silvana Santos in the community of Riacho dos Cavalos, Paraíba state, Brazil.{{cite journal |last1=Alves |first1=Leandro U |last2=Santos |first2=Silvana |last3=Musso |first3=Camila M |last4=Ezquina |first4=Suzana AM |last5=Opitz |first5=John M |last6=Kok |first6=Fernando |last7=Otto |first7=Paulo A |last8=Mingroni-Netto |first8=Regina C |title=Santos syndrome is caused by mutation in the WNT7A gene |journal=Journal of Human Genetics |date=December 2017 |volume=62 |issue=12 |pages=1073–1078 |doi=10.1038/jhg.2017.86|pmid=28855715 }} This condition causes severe congenital limb deformities.{{cite journal |last1=Santos |first1=Silvana C. |last2=Pardono |first2=Eliete |last3=Ferreira da Costa |first3=Maria Ione |last4=de Melo |first4=Aurea Nogueira |last5=Graciani |first5=Zodja |last6=de Albuquerque e Souza |first6=Alessandra Cavalcanti |last7=Lezirovitz |first7=Karina |last8=Thiele-Aguiar |first8=Renata Soares |last9=Mingroni-Netto |first9=Regina Célia |last10=Opitz |first10=John M. |last11=Kok |first11=Fernando |last12=Otto |first12=Paulo A. |title=A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects |journal=American Journal of Medical Genetics Part A |date=15 December 2008 |volume=146A |issue=24 |pages=3126–3131 |doi=10.1002/ajmg.a.32580|pmid=19012338 }} In 1976, he described, along with Mayana Zatz, a new form of hereditary spastic paraplegia known as SPG34 ([https://omim.org/entry/300750 #300750]).{{cite journal |last1=Zatz |first1=M |last2=Penha-Serrano |first2=C |last3=Otto |first3=P A |title=X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. |journal=Journal of Medical Genetics |date=1 June 1976 |volume=13 |issue=3 |pages=217–222 |doi=10.1136/jmg.13.3.217|pmid=1084423 |pmc=1013396 }} In 2006, he discovered a novel intellectual disabillity syndrome ([https://omim.org/entry/312180 #312180]) caused by a homozygous mutation in the UBE2A gene.{{cite journal |last1=Nascimento |first1=Rafaella M.P. |last2=Otto |first2=Paulo A. |last3=de Brouwer |first3=Arjan P.M. |last4=Vianna-Morgante |first4=Angela M. |title=UBE2A, Which Encodes a Ubiquitin-Conjugating Enzyme, Is Mutated in a Novel X-Linked Mental Retardation Syndrome |journal=The American Journal of Human Genetics |date=September 2006 |volume=79 |issue=3 |pages=549–555 |doi=10.1086/507047|pmid=16909393 }}{{cite journal |last1=de Oliveira |first1=Juliana Ferreira |last2=do Prado |first2=Paula Favoretti Vital |last3=da Costa |first3=Silvia Souza |last4=Sforça |first4=Mauricio Luis |last5=Canateli |first5=Camila |last6=Ranzani |first6=Americo Tavares |last7=Maschietto |first7=Mariana |last8=de Oliveira |first8=Paulo Sergio Lopes |last9=Otto |first9=Paulo A. |last10=Klevit |first10=Rachel E. |last11=Krepischi |first11=Ana Cristina Victorino |last12=Rosenberg |first12=Carla |last13=Franchini |first13=Kleber Gomes |title=Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability |journal=Nature Chemical Biology |date=January 2019 |volume=15 |issue=1 |pages=62–70 |doi=10.1038/s41589-018-0177-2|pmid=30531907 |pmc=6626659 }}