Universität zu Köln

McCarthy, John, Lupo, Philip J., Kovar, Erin, Rech, Megan ORCID: 0000-0002-3037-2521, Bostwick, Bret, Scott, Daryl, Kraft, Katerina, Roscioli, Tony, Charrow, Joel, Vergano, Samantha A. Schrier, Lose, Edward, Smigel, Robert, Lacassie, Yves and Schaaf, Christian P. (2018). Schaaf-Yang syndrome overview: Report of 78 individuals. Am. J. Med. Genet. A, 176 (12). S. 2564 - 2575. HOBOKEN: WILEY. ISSN 1552-4833

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Abstract

Schaaf-Yang Syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13. SYS is a neurodevelopmental disorder that has clinical overlap with Prader-Willi Syndrome in the initial stages of life but becomes increasingly distinct throughout childhood and adolescence. Here, we describe the phenotype of an international cohort of 78 patients with nonsense or frameshift mutations in MAGEL2. This cohort includes 43 individuals that have been reported previously, as well as 35 newly identified individuals with confirmed pathogenic genetic variants. We emphasize that intellectual disability/developmental delay, autism spectrum disorder, neonatal hypotonia, infantile feeding problems, and distal joint contractures are the most consistently shared features of patients with SYS. Our results also indicate that there is a marked prevalence of infantile respiratory distress, gastroesophageal reflux, chronic constipation, skeletal abnormalities, sleep apnea, and temperature instability. While there are many shared features, patients with SYS are characterized by a wide phenotypic spectrum, including a variable degree of intellectual disability, language development, and motor milestones. Our results indicate that the variation in phenotypic severity may depend on the specific location of the truncating mutation, suggestive of a genotype-phenotype association. This evidence may be useful in both prenatal and pediatric genetic counseling.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code McCarthy, John UNSPECIFIED UNSPECIFIED UNSPECIFIED Lupo, Philip J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kovar, Erin UNSPECIFIED UNSPECIFIED UNSPECIFIED Rech, Megan UNSPECIFIED orcid.org/0000-0002-3037-2521 UNSPECIFIED Bostwick, Bret UNSPECIFIED UNSPECIFIED UNSPECIFIED Scott, Daryl UNSPECIFIED UNSPECIFIED UNSPECIFIED Kraft, Katerina UNSPECIFIED UNSPECIFIED UNSPECIFIED Roscioli, Tony UNSPECIFIED UNSPECIFIED UNSPECIFIED Charrow, Joel UNSPECIFIED UNSPECIFIED UNSPECIFIED Vergano, Samantha A. Schrier UNSPECIFIED UNSPECIFIED UNSPECIFIED Lose, Edward UNSPECIFIED UNSPECIFIED UNSPECIFIED Smigel, Robert UNSPECIFIED UNSPECIFIED UNSPECIFIED Lacassie, Yves UNSPECIFIED UNSPECIFIED UNSPECIFIED Schaaf, Christian P. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-162994
DOI:	10.1002/ajmg.a.40650
Journal or Publication Title:	Am. J. Med. Genet. A
Volume:	176
Number:	12
Page Range:	S. 2564 - 2575
Date:	2018
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1552-4833
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PRADER-WILLI-SYNDROME; TRUNCATING MUTATIONS; MAGEL2; PHENOTYPE Multiple languages Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/16299