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15.13. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

J Zhang , J Li , JB Saucier , Y Feng , Y Jiang , J Sinson , AK McCombs , ES Schmitt , S Peacock , S Chen , H Dai , X Ge , G Wang , CA Shaw , H Mei , A Breman , F Xia , Y Yang , A Purgason , A Pourpak , Z Chen , X Wang , Y Wang , S Kulkarni , KW Choy , RJ Wapner , IB Van den Veyver , A Beaudet , S Parmar , LJ Wong , CM Eng

To read the full abstract: Nat Med. 2019 Mar;25(3):439447.Prenatal screening for trisomy 21, trisomy 18, trisomy 13, and sex chromosome aneuploidies can be performed using next-generation sequencing of cell-free DNA (cfDNA) in the maternal circulation. This article describes a new non-invasive prenatal screening (NIPS) approach for the detection of de novo or paternally inheri...

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ey0015.2-9 | MEHMO syndrome is a novel X-linked retardation syndrome associated with neonatal hypoglycaemia, hypopituitarism and early onset diabetes mellitus | ESPEYB15

2.9 EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

M Skopkova , F Hennig , BS Shin , CE Turner , D Stanikova , K Brennerova , J Stanik , U Fischer , L Henden , U Müller , D Steinberger , E Leshinsky-Silver , A Bottani , T Kurdiova , J Ukropec , O Nyitrayova , M Kolnikova , I Klimes , G Borck , M Bahlo , SA Haas , JR Kim , LE Lotspeich-Cole , D Gasperikova , TE Dever , VM Kalscheuer

To read the full abstract: Hum Mutat 2017 Apr;38(4):409-425See Comment under 2.10...

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ey0015.7-10 | New genes in hypogonadotropic hypogonadism | ESPEYB15

7.10 DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development

J Bouilly , A Messina , G Papadakis , D Cassatella , C Xu , JS Acierno , B Tata , G Sykiotis , S Santini , Y Sidis , E Elowe-Gruau , F Phan-Hug , M Hauschild , PM Bouloux , R Quinton , M Lang-Muritano , L Favre , L Marino , P Giacobini , AA Dwyer , NJ Niederländer , N Pitteloud

To read the full abstract: Hum Mol Genet. 2018 Jan 15;27(2):359-372See comment on 7.11...

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ey0015.11-6 | New Developments in Monogenic Obesity | ESPEYB15

11.6 Evaluation of a melanocortin-4 receptor (MC4R) agonist (setmelanotide) in MC4R deficiency

TH Collet , B Dubern , J Mokrosinski , H Connors , JM Keogh , E Mendes de Oliveira , E Henning , C Poitou-Bernert , JM Oppert , P Tounian , F Marchelli , R Alili , J Le Beyec , D Pépin , JM Lacorte , A Gottesdiener , R Bounds , S Sharma , C Folster , S Henderson B O'Rahilly , E Stoner , K Gottesdiener , BL Panaro , RD Cone , K Clément , IS Farooqi , LHT Van der Ploeg

To read the full abstract: Mol Metab. 2017 Oct; 6(10): 1321–1329See comment on 11.7...

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ey0015.11-7 | New Developments in Monogenic Obesity | ESPEYB15

11.7 MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency

K Clément , H Biebermann , IS Farooqi , L Van der Ploeg , B Wolters , C Poitou , L Puder , F Fiedorek , K Gottesdiener , G Kleinau , N Heyder , P Scheerer , U Blume-Peytavi , I Jahnke , S Sharma , J Mokrosinski , S Wiegand , A Müller , K Weiß , K Mai , J Spranger , A Grüters , O Blankenstein , H Krude , P Kühnen

To read the full abstract: Nat Med 2018, May;24(5):551-555[Comments on 1.1, 1.5, 1.6 and 1.7] All four here presented articles have monogenic obesity as their theme. While patients with monogenic obesity are rare, these individuals bear a heavy disease burden. Furthermore, these...

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ey0015.12-4 | New Mechanism | ESPEYB15

12.4 Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

V Rusu , E Hoch , JM Mercader , DE Tenen , M Gymrek , CR Hartigan , M DeRan , M von Grotthuss , P Fontanillas , A Spooner , G Guzman , AA Deik , KA Pierce , C Dennis , CB Clish , SA Carr , BK Wagner , M Schenone , MCY Ng , BH Chen , M Consortium , STD Consortium , F Centeno-Cruz , C Zerrweck , L Orozco , DM Altshuler , SL Schreiber , JC Florez , SBR Jacobs , ES Lander

To read the full abstract: Cell 2017;170:199-212 e20T2DM has a disproportionate impact on persons of Latin American descent. GWAS in Mexican and other Latin American samples identified a haplotype containing four missense SNPs, all in SLC16A11, that were much more common in individuals with Native American ancestry than in east Asian, European and African samples. The association was stronge...

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ey0015.12-15 | New Genes | ESPEYB15

12.15 A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption

Y-Y Zhang , Z-Y Fu , J Wei , W Qi , G Baituola , J Luo , Y-J Meng , S-Y Guo , H Yin , S-Y Jiang , Y-F Li , H-H Miao , Y Liu , Y Wang , B-L Li , Y-T Ma , B-L Song

To read the full abstract: Science 2018;360:1087-1092During the Cardiovascular Risk Survey in western China, a Kazakh family with inherited low levels of LDL-C was identified. The Kazakhs are mainly descendent from the Turkic and medieval Mongol peoples, they live in isolated regions and usually marry within their own ethnic group. They exhibit often unique differences in single nucleotide vari...

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ey0020.2-2 | Important for Clinical Practice | ESPEYB20

2.2. Safety and efficacy of pediatric growth hormone therapy: results from the full KIGS cohort

M Maghnie , MB Ranke , ME Geffner , E Vlachopapadopoulou , L Ibanez , M Carlsson , W Cutfield , R Rooman , R Gomez , MP Wajnrajch , A Linglart , R Stawerska , PE Clayton , F Darendeliler , ACS Hokken-Koelega , R Horikawa , T Tanaka , HG Dorr , K Albertsson-Wikland , M Polak , A Grimberg

Brief summary: This study reports data from the full Kabi/Pfizer International Growth Database (KIGS), a large international database including 83803 children treated with rhGH for GHD and non-GHD conditions. The data confirm that rhGH is effective in increasing short-term height gain and adult height in various conditions and validate rhGH safety, with no new serious adverse events reported.KIGS (Kabi/Pfizer International Growth Database), first establi...

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ey0020.2-10 | Long-Acting Growth Hormone (LAGH) | ESPEYB20

2.10. Long-acting PEGylated growth hormone in children with idiopathic short stature

X Luo , S Zhao , Y Yang , G Dong , L Chen , P Li , F Luo , C Gong , Z Xu , X Xu , H Gong , H Du , L Hou , Y Zhong , Q Shi , X Chen , X Chen , L Xu , R Cheng , C Su , Y Ma , L Xu , L Zhang , H Lu

Brief summary: This randomized, multicenter, controlled, phase II study compared the effects of high-dose (HD) once-weekly PEGylated-recombinant human growth hormone (PEG-rhGH) to low-dose (LD) and to an untreated control group of children with idiopathic short stature (ISS) over a period of 52 weeks. PEG-rhGH was effective in increasing height gain in a dose dependent manner with both doses being well tolerated during the observation period.PEG-rhGH is ...

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ey0020.3-9 | Advances in Clinical Practice | ESPEYB20

3.9. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

M Maghnie , O Semler , E Guillen-Navarro , A Selicorni , KE Heath , G Haeusler , L Hagenas , A Merker , A Leiva-Gea , VL Gonzalez , A Raimann , M Rehberg , F Santos-Simarro , DA Ertl , PA Gregersen , R Onesimo , E Landfeldt , J Jarrett , J Quinn , R Rowell , J Pimenta , S Cohen , T Butt , R Shediac , S Mukherjee , K Mohnike

In Brief: Individuals with achondroplasia carry a lifelong burden of reduced physical and mental health. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) found that, across an individuals lifetime, achondroplasia is associated with multisystem complications, reduced QoL and functionality, increased pain and increased healthcare resource utilization.Commentary: Individuals with achondroplasia present with a range of clinic...

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ESPE Yearbook of Paediatric Endocrinology

15.13. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

2.9 EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

7.10 DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development

11.6 Evaluation of a melanocortin-4 receptor (MC4R) agonist (setmelanotide) in MC4R deficiency

11.7 MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency

12.4 Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

12.15 A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption

2.2. Safety and efficacy of pediatric growth hormone therapy: results from the full KIGS cohort

2.10. Long-acting PEGylated growth hormone in children with idiopathic short stature

3.9. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

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