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MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency

Shima, Hirohito ; Hayashi, Mie ; Tachibana, Takashi ; Oshiro, Makoto ; Amano, Naoko ; Ishii, Tomohiro ; Haruna, Hidenori ; Igarashi, Maki ; Kon, Masafumi ; Fukuzawa, Ryuji ; Tanaka, Yukichi ; Fukami, Maki ; Hasegawa, Tomonobu ; Narumi, Satoshi Tu, Wen-Jun

PloS one, 2018-11, Vol.13 (11), p.e0206184-e0206184 [Periódico revisado por pares]

United States: Public Library of Science

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Título:
MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency
Autor: Shima, Hirohito ; Hayashi, Mie ; Tachibana, Takashi ; Oshiro, Makoto ; Amano, Naoko ; Ishii, Tomohiro ; Haruna, Hidenori ; Igarashi, Maki ; Kon, Masafumi ; Fukuzawa, Ryuji ; Tanaka, Yukichi ; Fukami, Maki ; Hasegawa, Tomonobu ; Narumi, Satoshi
Tu, Wen-Jun
Assuntos: Adrenal insufficiency ; Age ; Analysis ; Biology and Life Sciences ; Birth weight ; Childrens health ; Chronic infection ; Constellations ; Defects ; Deoxyribonucleic acid ; Diarrhea ; DNA ; Endocrinology ; Genetic aspects ; Genetics ; Genomes ; Gestational age ; Health aspects ; Japanese ; Medicine ; Medicine and Health Sciences ; Metabolism ; Mutation ; Neonates ; Pathogenicity ; Pathogens ; Patients ; Pediatrics ; Phenotype ; Phenotypes ; Placenta ; Prevalence studies (Epidemiology) ; Research and analysis methods ; Small-for-gestational age ; Studies ; Thrombocytopenia ; Tissues ; Weight
É parte de: PloS one, 2018-11, Vol.13 (11), p.e0206184-e0206184
Notas: ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
Competing Interests: The authors have declared that no competing interests exist.
Descrição: MIRAGE syndrome, a congenital multisystem disorder due to pathogenic SAMD9 variants, describes a constellation of clinical features including 46,XY disorders of sex development (DSD), small for gestational age (SGA) and adrenal insufficiency (AI). It is poorly understood whether SAMD9 variants underlie 46,XY DSD patients born SGA (46,XY DSD SGA) without AI. This study aimed to define the frequency and phenotype of SAMD9 variants in 46,XY DSD SGA without AI. Forty-nine Japanese patients with 46,XY DSD SGA (Quigley scale, 2 to 6; gestational age-matched birth weight percentile, <10) without history of AI were enrolled. The single coding exon of SAMD9 was PCR-amplified and sequenced for each patient. Pathogenicity of an identified variant was verified in vitro. Placenta tissues were obtained from the variant-carrying patient, as well as from another previously described patient, and were analyzed histologically. In one 46,XY DSD SGA patient, a novel heterozygous SAMD9 variant, p.Phe1017Val, was identified. Pathogenicity of the mutant was experimentally confirmed. In addition to DSD and SGA, the patient had neonatal thrombocytopenia, severe postnatal grow restriction, chronic diarrhea and susceptibility to infection, all features consistent with MIRAGE, leading to premature death at age 14 months. The patient did not have any manifestations or laboratory findings suggesting AI. Placenta tissues of the two variant-carrying patients were characterized by maldevelopment of distal villi without other findings of maternal underperfusion. MIRAGE syndrome is a rare cause of 46,XY DSD SGA without AI. This study exemplifies that AI is a common feature of MIRAGE syndrome but that the absence of AI should not rule out a diagnosis of the syndrome.
Editor: United States: Public Library of Science
Idioma: Inglês

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MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency

Shima, Hirohito ; Hayashi, Mie ; Tachibana, Takashi ; Oshiro, Makoto ; Amano, Naoko ; Ishii, Tomohiro ; Haruna, Hidenori ; Igarashi, Maki ; Kon, Masafumi ; Fukuzawa, Ryuji ; Tanaka, Yukichi ; Fukami, Maki ; Hasegawa, Tomonobu ; Narumi, Satoshi Tu, Wen-Jun

United States: Public Library of Science

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