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Polysomnographic characteristics and sleep-disordered breathing in Schaaf-Yang syndrome.
Powell WT, Schaaf CP, Rech ME, Wrede J. Powell WT, et al. Pediatr Pulmonol. 2020 Nov;55(11):3162-3167. doi: 10.1002/ppul.25056. Epub 2020 Sep 12. Pediatr Pulmonol. 2020. PMID: 32889788
INTRODUCTION: Schaaf-Yang syndrome (SYS) is a genetic disorder caused by truncating variants in the MAGEL2 gene located in the maternally imprinted Prader-Willi syndrome (PWS) region at 15q11-13. ...
INTRODUCTION: Schaaf-Yang syndrome (SYS) is a genetic disorder caused by truncating variants in the MAGEL2 gene located …
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.
Negishi Y, Ieda D, Hori I, Nozaki Y, Yamagata T, Komaki H, Tohyama J, Nagasaki K, Tada H, Saitoh S. Negishi Y, et al. Orphanet J Rare Dis. 2019 Dec 2;14(1):277. doi: 10.1186/s13023-019-1249-4. Orphanet J Rare Dis. 2019. PMID: 31791363 Free PMC article.
BACKGROUND: Schaaf-Yang syndrome (SYS) is a newly recognized imprinting related syndrome, which is caused by a truncating variant in maternally imprinted MAGEL2 located in 15q11-q13. ...
BACKGROUND: Schaaf-Yang syndrome (SYS) is a newly recognized imprinting related syndrome, which is caused by a truncati …
The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature.
Juriaans AF, Kerkhof GF, Hokken-Koelega ACS. Juriaans AF, et al. Endocr Rev. 2022 Jan 12;43(1):1-18. doi: 10.1210/endrev/bnab026. Endocr Rev. 2022. PMID: 34460908 Review.
The most common genetic diagnoses were Temple syndrome (formerly known as maternal uniparental disomy 14), Schaaf-Yang syndrome (truncating mutation in the MAGEL2 gene), 1p36 deletion, 2p deletion, 6q deletion, 6q duplication, 15q deletion, 15q duplication, 1 …
The most common genetic diagnoses were Temple syndrome (formerly known as maternal uniparental disomy 14), Schaaf-Yang synd …
A retrospective analysis of growth hormone therapy in children with Schaaf-Yang syndrome.
Hebach NR, Caro P, Martin-Giacalone BA, Lupo PJ, Marbach F, Choukair D, Schaaf CP. Hebach NR, et al. Clin Genet. 2021 Sep;100(3):298-307. doi: 10.1111/cge.14000. Epub 2021 Jun 6. Clin Genet. 2021. PMID: 34013972
Short stature is a common phenotype in children with Schaaf-Yang syndrome (SYS). Prader-Willi syndrome (PWS) and SYS share several phenotypic features including short stature, muscular hypotonia and developmental delay/intellectual disability. ...
Short stature is a common phenotype in children with Schaaf-Yang syndrome (SYS). Prader-Willi syndrome (PWS) and SYS sh …
Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity.
Baraghithy S, Smoum R, Drori A, Hadar R, Gammal A, Hirsch S, Attar-Namdar M, Nemirovski A, Gabet Y, Langer Y, Pollak Y, Schaaf CP, Rech ME, Gross-Tsur V, Bab I, Mechoulam R, Tam J. Baraghithy S, et al. J Bone Miner Res. 2019 Jan;34(1):93-105. doi: 10.1002/jbmr.3591. Epub 2018 Oct 22. J Bone Miner Res. 2019. PMID: 30347474 Free article.
Here we show in mice that loss of Magel2, a maternally imprinted gene in the PWS critical region, results in reduced bone mass, density, and strength, corresponding to that observed in humans with PWS, as well as in individuals suffering from Schaaf-Yang syndrome …
Here we show in mice that loss of Magel2, a maternally imprinted gene in the PWS critical region, results in reduced bone mass, density, and …
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
Gregory LC, Shah P, Sanner JRF, Arancibia M, Hurst J, Jones WD, Spoudeas H, Le Quesne Stabej P, Williams HJ, Ocaka LA, Loureiro C, Martinez-Aguayo A, Dattani MT. Gregory LC, et al. J Clin Endocrinol Metab. 2019 Dec 1;104(12):5737-5750. doi: 10.1210/jc.2019-00631. J Clin Endocrinol Metab. 2019. PMID: 31504653 Free PMC article.
CONTEXT: Congenital hypopituitarism (CH) is rarely observed in combination with severe joint contractures (arthrogryposis). Schaaf-Yang syndrome (SHFYNG) phenotypically overlaps with Prader-Willi syndrome, with patients also manifesting arthrogryposis. ...
CONTEXT: Congenital hypopituitarism (CH) is rarely observed in combination with severe joint contractures (arthrogryposis). Schaaf- …