McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10316067" target="_blank" >RIV/00216208:11130/15:10316067 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064203:_____/15:10316067

Výsledek na webu

<a href="http://dx.doi.org/10.14310/horm.2002.1578" target="_blank" >http://dx.doi.org/10.14310/horm.2002.1578</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.14310/horm.2002.1578" target="_blank" >10.14310/horm.2002.1578</a>

Jazyk výsledku

angličtina

Název v původním jazyce

McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue

Popis výsledku v původním jazyce

OBJECTIVE: Corticotropin (ACTH)-independent hypercortisolism due to bilateral adrenocortical hyperplasia (BAH) in infancy is an extremely rare condition that is often caused by McCune Albright syndrome (MAS). MAS is caused by an activating mutation of the GNAS gene which leads to increased cyclic (c) adenosine monophosphate (AMP) signaling. Most forms of BAH are linked to increased cAMP signaling. We report the case of an infant with MAS who had BAH. METHODS: Genomic DNA fragments from blood and adrenaltissue encompassing regions (exons 8 and 9) with the hot spot activating missense GNAS mutations were amplified by classical bidirectional Sanger sequencing. RESULTS: The infant was found to carry the most common GNAS mutation, in exon 8 (c.602G>A, p. R201H), only in her adrenocortical tissue, despite extensive skin and other findings. CONCLUSIONS: We conclude that infants with MAS, despite absence of the GNAS activating mutation in blood, may still have significant clinical findings, i

Název v anglickém jazyce

McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue

Popis výsledku anglicky

OBJECTIVE: Corticotropin (ACTH)-independent hypercortisolism due to bilateral adrenocortical hyperplasia (BAH) in infancy is an extremely rare condition that is often caused by McCune Albright syndrome (MAS). MAS is caused by an activating mutation of the GNAS gene which leads to increased cyclic (c) adenosine monophosphate (AMP) signaling. Most forms of BAH are linked to increased cAMP signaling. We report the case of an infant with MAS who had BAH. METHODS: Genomic DNA fragments from blood and adrenaltissue encompassing regions (exons 8 and 9) with the hot spot activating missense GNAS mutations were amplified by classical bidirectional Sanger sequencing. RESULTS: The infant was found to carry the most common GNAS mutation, in exon 8 (c.602G>A, p. R201H), only in her adrenocortical tissue, despite extensive skin and other findings. CONCLUSIONS: We conclude that infants with MAS, despite absence of the GNAS activating mutation in blood, may still have significant clinical findings, i

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FG - Pediatrie

OECD FORD obor

—

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Hormones (Athens, Greece)

ISSN

1109-3099

e-ISSN

—

Svazek periodika

14

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

GR - Řecká republika

Počet stran výsledku

4

Strana od-do

447-450

Kód UT WoS článku

000365092400015

EID výsledku v databázi Scopus

2-s2.0-84938526096