MKRN3 mutations in familial central precocious puberty.

Abstract:

:Loss-of-function mutations in the gene encoding the makorin RING finger protein 3 (MKRN3) have recently been reported to underlie familial cases of central precocious puberty (CPP). The imprinted MKRN3 gene is expressed only from the paternal allele, and mutations inherited from the father affect boys and girls equally, which is in contrast to the known female preponderance in idiopathic CPP. By screening a series of 6 families and 1 male patient with idiopathic CPP, we identified 2 further families carrying loss-of-function mutations in MKRN3, the previously reported variant c.475_476insC (p.Ala162Glyfs*14) and a novel one, c.331G>T (p.Glu111*). We conclude that MKRN3 mutations appear to be a frequent cause of familial CPP and, considering the imprinted mode of inheritance, may also account for a certain proportion of isolated CPP cases. Remarkably, four out of six MKRN3 mutations described so far encode either a stop codon or a frameshift followed by a premature stop codon. Consequently, there may be less severe mutations that possibly associate with more subtle phenotypes, which could even explain variation within the physiological range. Mutation screening in larger cohorts is necessary in order to estimate the real prevalence of MKRN3 mutations in idiopathic CPP.

journal_name

Horm Res Paediatr

authors

Schreiner F,Gohlke B,Hamm M,Korsch E,Woelfle J

doi

10.1159/000362815

subject

Has Abstract

pub_date

2014-01-01 00:00:00

pages

122-6

issue

2

eissn

1663-2818

issn

1663-2826

pii

000362815

journal_volume

82

pub_type

杂志文章
  • Multiple factors influencing the incidence of congenital hypothyroidism detected by neonatal screening.

    abstract:BACKGROUND/AIMS:Over the years a rise in the incidence of congenital hypothyroidism (CH) has been described worldwide. The aim of our study was to investigate trends in the incidence of CH in Italy over the period 1987-2008, and to investigate which factors may have influenced the CH incidence in our country. METHODS:...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000369394

    authors: Olivieri A,Fazzini C,Medda E,Italian Study Group for Congenital Hypothyroidism.

    更新日期:2015-01-01 00:00:00

  • Cross-sectional association between blood pressure, in vivo insulin sensitivity and adiponectin in overweight adolescents.

    abstract:AIMS:To examine the cross-sectional relationship between blood pressure (BP) and (1) in vivo insulin sensitivity (IS) and (2) circulating adiponectin levels in overweight adolescents, and to determine if these relationships are driven by adiposity. METHODS:Sixty-five white pubertal overweight adolescents underwent a h...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000331462

    authors: De Las Heras J,Lee S,Bacha F,Tfayli H,Arslanian S

    更新日期:2011-01-01 00:00:00

  • The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway.

    abstract::3-M syndrome is an autosomal recessive primordial growth disorder characterised by severe postnatal growth restriction caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of radiological abnormalities. CUL7 is a stru...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章,评审

    doi:10.1159/000334392

    authors: Hanson D,Murray PG,Black GC,Clayton PE

    更新日期:2011-01-01 00:00:00

  • The Association between Premature Adrenarche and Cardiovascular Risk May Be Greater than Expected.

    abstract:AIM:The aim of this study was to investigate the cardiovascular risk of children with premature adrenarche (PA). METHODS:A total of 75 children (44 with PA and 31 control subjects) aged 6-10 years were included in the study. Their metabolic, anthropometric, and echocardiographic parameters were recorded and compared. ...

    journal_title:Hormone research in paediatrics

    pub_type: 临床试验,杂志文章

    doi:10.1159/000452445

    authors: Çelik N,Alp H,Çamtosun E,Alp E,Çelik S,Berk E

    更新日期:2017-01-01 00:00:00

  • Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome.

    abstract:BACKGROUND/AIMS:Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in orde...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000475991

    authors: Al-Ashwal AA,Al-Sagheir A,Ramzan K,Al-Owain M,Allam R,Qari A,Al-Numair NS,Imtiaz F

    更新日期:2017-01-01 00:00:00

  • Lack of association of common allelic variants in the thyroglobulin gene with Hashimoto's thyroiditis in young subjects with type 1 diabetes.

    abstract:BACKGROUND/AIM:Four SNPs (E10SNP24, E10SNP158, E12SNP, E33SNP) in the Tg gene are suspected to be involved in the development of autoimmune thyroid diseases. The aim of the study was to determine whether these variants play a role in the development of Hashimoto's thyroiditis in young subjects with type 1 diabetes, in ...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000284388

    authors: Kotnik P,Debeljak M,Avbelj M,Hovnik T,Ursic Bratina N,Krzisnik C,Battelino T

    更新日期:2010-01-01 00:00:00

  • IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature).

    abstract:BACKGROUND/AIMS:Because the criteria for genetic screening of short children are unknown, we performed genetic analysis of 199 short children born small for gestational age (SGA) or with normal birth size (idiopathic short stature, ISS). METHODS:After selection with a modified scoring system for SHOX and a novel score...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000338341

    authors: Caliebe J,Broekman S,Boogaard M,Bosch CA,Ruivenkamp CA,Oostdijk W,Kant SG,Binder G,Ranke MB,Wit JM,Losekoot M

    更新日期:2012-01-01 00:00:00

  • Auxological evaluation in patients with a 22q11.2 microdeletion syndrome: normal prevalence of obesity and neonatal length and gender influence on body mass index evolution.

    abstract:AIMS:To evaluate auxological parameters in children and adults with a 22q11.2 microdeletion syndrome (22q11.2 DS) and to compare prevalence of obesity to that in the French general population. METHODS:102 patients with 22q11.2 DS (49 males, 53 females) were recruited from birth to adulthood through a reference center ...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000328454

    authors: Reynaud R,Derain-Court J,Braunstein D,Veyrat M,Gaudart J,Giuliano F,Philip N

    更新日期:2011-01-01 00:00:00

  • Endothelial nitric oxide synthase T(-786)C polymorphism in children and adolescents with type 1 diabetes and impaired endothelium-dependent dilatation.

    abstract:BACKGROUND/AIMS:This study aimed to investigate the association of endothelial nitric oxide synthase (eNOS) polymorphisms with impaired endothelium-dependent dilatation (EDD) in a cohort of children and adolescents with type 1 diabetes. METHODS:Ninety-seven children and adolescents with type 1 diabetes underwent ultra...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000329549

    authors: Battelino N,Sebestjen M,Keber I,Blagus R,Hovnik T,Bratina N,Battelino T

    更新日期:2011-01-01 00:00:00

  • Metabolic benefits of growth hormone therapy in idiopathic short stature.

    abstract::The US Food and Drug Administration approved use of recombinant human growth hormone (GH) for the treatment of idiopathic short stature (ISS) in children; however, few studies have evaluated metabolic outcomes. This article addresses whether children with ISS treated with GH experience the same metabolic benefits as c...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章,评审

    doi:10.1159/000330165

    authors: Dahlgren J

    更新日期:2011-01-01 00:00:00

  • Insulin-like growth factor I: pros and cons of a bioassay.

    abstract:BACKGROUND:Insulin-like growth factor I (IGF-I) immunoassays are primarily used to estimate IGF-I status. Recently an IGF-I-specific kinase receptor activation assay (KIRA) was developed as an alternative method for measuring IGF-I bioactivity. When compared with IGF-I immunoassays, the IGF-I KIRA has the theoretical a...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000329191

    authors: Janssen JA

    更新日期:2011-01-01 00:00:00

  • Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b.

    abstract:BACKGROUND:Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations of either the G6PC gene (GSD1a) or the SLC37A4 gene (GSD1b). Osteopenia is a known complication of GSD1. OBJECTIVES:The aim of this study was to investigate the effects of poor...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1159/000351022

    authors: Melis D,Pivonello R,Cozzolino M,Della Casa R,Balivo F,Del Puente A,Dionisi-Vici C,Cotugno G,Zuppaldi C,Rigoldi M,Parini R,Colao A,Andria G,Parenti G

    更新日期:2014-01-01 00:00:00

  • Fasting hypoglycaemia and postprandial hyperglycaemia as a prodrome of type 1 diabetes mellitus.

    abstract::The pathophysiology of type 1 diabetes mellitus (DM) involves the selective autoimmune destruction of the pancreatic beta-cells [Pihoker et al.: Diabetes 2005;54(suppl 2):S52-S61]. The onset of type 1 DM is characterised by hyperglycaemia. Islet cell antibody (ICA), anti-insulin, anti-glutamic acid decarboxylase and t...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000337254

    authors: Rafeullah N,Cackett N,Hussain K

    更新日期:2012-01-01 00:00:00

  • Water Balance and 'Salt Wasting' in the First Year of Life: The Role of Aldosterone-Signaling Defects.

    abstract::In newborns and infants, dehydration and salt wasting represent a relatively common cause of admission to hospital and may result in life-threatening complications. Kidneys are responsible for electrolyte homoeostasis, but neonatal kidneys show low glomerular filtration rate and immaturity of the distal nephron, leadi...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000449057

    authors: Bizzarri C,Pedicelli S,Cappa M,Cianfarani S

    更新日期:2016-01-01 00:00:00

  • Metabolic syndrome in children: comparison of the International Diabetes Federation 2007 consensus with an adapted National Cholesterol Education Program definition in 300 overweight and obese French children.

    abstract:BACKGROUND/AIMS:Former definitions of metabolic syndrome (MS) in children have been adapted from adult MS definitions using age-related thresholds for each biochemical component, whereas the International Diabetes Federation (IDF) definition is based on absolute values. We compared the IDF childhood MS definition (IDF-...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000284359

    authors: Druet C,Ong K,Levy Marchal C

    更新日期:2010-01-01 00:00:00

  • Influence of fetal growth velocity and smallness at birth on adrenal function in adolescence.

    abstract::The hypothalamic-pituitary-adrenal axis is susceptible to programming during fetal development and may be linked to risk of disease later in life. In a former prospective study the cohort was divided into those born appropriate for gestational age (AGA) or small for gestational age (SGA; birth weight <10 percentile). ...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000315656

    authors: Beck Jensen R,Vielwerth S,Larsen T,Hilsted L,Cohen A,Hougaard DM,Jensen LT,Greisen G,Juul A

    更新日期:2011-01-01 00:00:00

  • An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues.

    abstract:BACKGROUND/AIMS:Splicing CYP19 gene variants causing aromatase deficiency in 46,XX disorder of sexual development (DSD) patients have been reported in a few cases. A misbalance between normal and aberrant splicing variants was proposed to explain spontaneous pubertal breast development but an incomplete sex maturation ...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000437142

    authors: Saraco N,Nesi-Franca S,Sainz R,Marino R,Marques-Pereira R,La Pastina J,Perez Garrido N,Sandrini R,Rivarola MA,de Lacerda L,Belgorosky A

    更新日期:2015-01-01 00:00:00

  • Effects of Recombinant Human Growth Hormone in Children with Crohn's Disease on the Muscle-Bone Unit: A Preliminary Study.

    abstract:BACKGROUND/AIMS:There is limited information on the impact of recombinant human growth hormone (rhGH) on the muscle-bone unit in children with Crohn's disease (CD). In this pilot study, we report on the effects of rhGH on bone formation, dual-energy X-ray absorptiometry (DXA) total body (TB) bone mineral density adjust...

    journal_title:Hormone research in paediatrics

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1159/000492398

    authors: Altowati MA,Shepherd S,McGrogan P,Russell RK,Ahmed SF,Wong SC

    更新日期:2018-01-01 00:00:00

  • Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.

    abstract:BACKGROUND:ACP5 deficiency is known to cause spondyloenchondrodysplasia (SPENCD), which is characterized by various autoimmune and neurological symptoms in addition to short stature. METHODS:Two siblings from a consanguineous Turkish family, a girl aged 13 years (P1) and a boy aged 8 years (P2), presented to their end...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000443684

    authors: de Bruin C,Orbak Z,Andrew M,Hwa V,Dauber A

    更新日期:2016-01-01 00:00:00

  • Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.

    abstract:BACKGROUND/AIMS:Temple syndrome is an imprinting disorder caused by maternal uniparental disomy of chromosome 14 (mat UPD14), paternal deletion of 14q32 or paternal hypomethylation of the intergenic differentially methylated region (MEG3/DLK1 IG-DMR). Patients with Temple syndrome have pre- and postnatal growth restric...

    journal_title:Hormone research in paediatrics

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1159/000496700

    authors: Brightman DS,Lokulo-Sodipe O,Searle BA,Mackay DJG,Davies JH,Temple IK,Dauber A

    更新日期:2018-01-01 00:00:00

  • A new horizon for glucose monitoring.

    abstract::Regular self-monitoring of blood glucose is crucial for proper insulin dosing and gives a reliable foundation for reasonable glycaemic control. According to recent data, recommended values for glycated haemoglobin A1c as set by the professional associations remain out of the reach for a large proportion of the paediat...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章,评审

    doi:10.1159/000368924

    authors: Dovč K,Bratina N,Battelino T

    更新日期:2015-01-01 00:00:00

  • IGF2 methylation is associated with lipid profile in obese children.

    abstract:AIM:Our aim was to investigate the relationships between the degree of IGF2 methylation and the metabolic status in obese children and adolescents. SUBJECTS AND METHODS:Eighty-five obese subjects aged 11.6 ± 2.1 years were studied. Anthropometry, metabolic parameters, blood pressure and body composition were assessed....

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000351707

    authors: Deodati A,Inzaghi E,Liguori A,Puglianiello A,Germani D,Brufani C,Fintini D,Cappa M,Barbetti F,Cianfarani S

    更新日期:2013-01-01 00:00:00

  • Cerebral Accidents in Pediatric Diabetic Ketoacidosis: Different Complications and Different Evolutions.

    abstract::Diabetic ketoacidosis (DKA) may be associated with neurologic complications: the most common is cerebral edema while the risk of venous and arterial stroke is rare. There is a pathogenetic link between DKA, hypercoagulability and stroke, whose risk is underestimated by clinicians. Our cases present a wide spectrum of ...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000382016

    authors: Mozzillo E,D'Amico A,Fattorusso V,Carotenuto B,Buono P,De Nitto E,Falco M,Franzese A

    更新日期:2015-01-01 00:00:00

  • Adrenocortical hormonal activity in 20-year-old subjects born small or appropriate for gestational age.

    abstract:BACKGROUND:Altered adrenocortical activity is one suggested mechanism relating small birth size with the metabolic syndrome in adulthood. Adrenal androgen concentrations are higher in children born small (SGA) than appropriate for gestational age (AGA). AIM:To compare adrenocortical hormonal activity between 20-year-o...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000338344

    authors: Todorova B,Salonen M,Jääskeläinen J,Tapio A,Jääskeläinen T,Palvimo J,Turpeinen U,Hämäläinen E,Räsänen M,Tenhola S,Voutilainen R

    更新日期:2012-01-01 00:00:00

  • Exploring clinician confidence in the management of adolescent menstrual and reproductive health problems.

    abstract:PURPOSE:A high incidence of menstrual problems is reported in adolescent girls, with significant attendant morbidity. The majority are likely to be seen and managed by doctors other than specialist gynaecologists. This study aimed to survey the practice of doctors other than gynaecologists, to establish their chosen th...

    journal_title:Hormone research in paediatrics

    pub_type: 临床试验,杂志文章

    doi:10.1159/000356920

    authors: Neylon OM,Grover SR,Zacharin M

    更新日期:2014-01-01 00:00:00

  • Gastric autoimmunity in children and adolescents with type 1 diabetes: a prospective study.

    abstract:BACKGROUND/AIMS:Type 1 diabetes (T1DM) is associated with gastric autoimmunity, which is characterized by the presence of parietal cell antibodies (APCA). We investigated gastric autoimmunity prevalence in T1DM children, its manifestations, determinants and association with thyroid gland (anti-Tg, anti-TPO) and pancrea...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000336923

    authors: Kakleas K,Kostaki M,Critselis E,Karayianni C,Giannaki M,Anyfantakis K,Haramaras I,Fotinou A,Papathanasiou A,Karavanaki K

    更新日期:2012-01-01 00:00:00

  • SHOX gene variants: growth hormone/insulin-like growth factor-1 status and response to growth hormone treatment.

    abstract:CONTEXT:Short stature homeobox-containing gene (SHOX) variants of unknown clinical significance occur frequently among children with short stature, yet their growth hormone (GH)/insulin-like growth factor-1 (IGF-1) status and response to GH have not been studied. OBJECTIVE:To define GH and IGF-1 status in children wit...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000365507

    authors: Shapiro S,Klein GW,Klein ML,Wallach EJ,Fen Y,Godbold JH,Rapaport R

    更新日期:2015-01-01 00:00:00

  • Marginal growth increase, altered bone quality and polycystic ovaries in female prepubertal rats after treatment with the aromatase inhibitor exemestane.

    abstract:BACKGROUND:Aromatase inhibition has been proposed as a potential approach for growth enhancement in children with short stature, but detailed animal studies are lacking. AIM:To assess the effect and potential adverse effects of aromatase inhibition on growth in female rats. METHODS:Prepubertal Wistar rats received in...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000271916

    authors: van Gool SA,Wit JM,De Schutter T,De Clerck N,Postnov AA,Kremer Hovinga S,van Doorn J,Veiga SJ,Garcia-Segura LM,Karperien M

    更新日期:2010-01-01 00:00:00

  • The Hypothalamic-Pituitary-Adrenal Axis and the Fetus.

    abstract::Glucocorticoids (GCs), cortisol in humans, influence multiple essential maturational events during gestation. In the human fetus, fetal hypothalamic-pituitary-adrenal (HPA) axis function, fetal adrenal steroidogenesis, placental 11β- hydroxysteroid dehydrogenase type 2 activity, maternal cortisol concentrations, and e...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章,评审

    doi:10.1159/000488106

    authors: Morsi A,DeFranco D,Witchel SF

    更新日期:2018-01-01 00:00:00

  • Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty.

    abstract:BACKGROUND AND OBJECTIVE:Woodhouse-Sakati syndrome (WSS) is a rare autosomal-recessive disorder characterized by a combination of hypogonadism, alopecia, diabetes mellitus (DM), mental retardation and extrapyramidal signs, not described previously in Israel. Our aim was to study the clinical and genetic characteristics...

    journal_title:Hormone research in paediatrics

    pub_type: 杂志文章

    doi:10.1159/000323441

    authors: Rachmiel M,Bistritzer T,Hershkoviz E,Khahil A,Epstein O,Parvari R

    更新日期:2011-01-01 00:00:00