The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Genetics in Medicine

Volumn 19, Issue 1, 2017, Pages 45-52

  Fountain, Michael D ^a,b   Aten, Emmelien ^c   Cho, Megan T ^d   Juusola, Jane ^d   Walkiewicz, Magdalena A ^a   Ray, Joseph W ^e,f   Xia, Fan ^a   Yang, Yaping ^a   Graham, Brett H ^a,b   Bacino, Carlos A ^a,b   Potocki, Lorraine ^a,b   Van Haeringen, Arie ^c   Ruivenkamp, Claudia A L ^c   Mancias, Pedro ^f   Northrup, Hope ^f   Kukolich, Mary K ^g   Weiss, Marjan M ^h   Van Ravenswaaij Arts, Conny M A ⁱ   Mathijssen, Inge B ^j   Levesque, Sebastien ^k   Meeks, Naomi ^l   Rosenfeld, Jill A ^a   Lemke, Danielle ^l   Hamosh, Ada ^m   Lewis, Suzanne K ⁿ   Race, Simone ⁿ   Stewart, Laura L ⁿ   Hay, Beverly ^o   Lewis, Andrea M ^a,b   Guerreiro, Rita L ^p   Bras, Jose T ^p   Martins, Marcia P ^q   Derksen Lubsen, Gerarda ^r   Peeters, Els ^r   Stumpel, Connie ^s   Stegmann, Sander ^s   Bok, Levinus A ^t   Santen, Gijs W E ^c   Schaaf, Christian P ^a,b   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d GENEDX   (United States)

^e UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

^f UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^g Neonatology Department   (United States)

^h VU UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^j ACADEMIC MEDICAL CENTER   (Netherlands)

^k CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

^l CHILDREN S HOSPITAL COLORADO   (United States)

^m JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁿ UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^o UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^p UNIVERSITY COLLEGE LONDON   (United Kingdom)

^q Hospital de Vila Real   (Portugal)

^r JULIANA CHILDREN S HOSPITAL   (Netherlands)

^s MAASTRICHT UNIVERSITY   (Netherlands)

^t M'xima Medical Center   (Netherlands)

more..

Author keywords

MAGEL2; Neurodevelopment; Prader Willi syndrome; Schaaf Yang syndrome

Indexed keywords

GENOMIC DNA; NUCLEOTIDE; MAGEL2 PROTEIN, HUMAN; PROTEIN;

ADOLESCENT; ADULT; AKINESIA; ALLELE; ARTHROGRYPOSIS; ARTICLE; AUTISM; AUTOMUTILATION; AUTOSOMAL DOMINANT DISORDER; BEHAVIOR DISORDER; BODY TEMPERATURE DISORDER; BRACHYDACTYLY; CAMPTODACTYLY; CHILD; CHRONIC CONSTIPATION; CLINICAL ARTICLE; CLINODACTYLY; CONVERGENT STRABISMUS; CRYPTORCHISM; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEEDING DIFFICULTY; FEMALE; FETUS; FETUS DISEASE; FINGER JOINT; GASTROESOPHAGEAL REFLUX; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HYPERPHAGIA; HYPOGONADISM; INFANT; INTELLECTUAL IMPAIRMENT; JOINT CONTRACTURE; KYPHOSIS; MAGEL2 GENE; MALE; MICROPENIS; MUSCLE HYPOTONIA; MUTATION RATE; MUTATOR GENE; MYOPIA; OBESITY; PATHOGENICITY; PHENOTYPE; SANGER SEQUENCING; SCHAAF YANG SYNDROME; SCHOOL CHILD; SCOLIOSIS; SEIZURE; SHORT STATURE; SLEEP DISORDERED BREATHING; STRABISMUS; WHOLE EXOME SEQUENCING; YOUNG ADULT; CHROMOSOME 15; GENE EXPRESSION; GENETICS; GENOME IMPRINTING; MUTATION; NEWBORN; PATHOPHYSIOLOGY; PRADER WILLI SYNDROME; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AUTISM SPECTRUM DISORDER; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 15; DEVELOPMENTAL DISABILITIES; FEMALE; GENE EXPRESSION; GENOMIC IMPRINTING; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; MUTATION; PHENOTYPE; PRADER-WILLI SYNDROME; PROTEINS;

EID: 85009192345     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.53     Document Type: Article

References (16)

1. Schaaf CP, Gonzalez-Garay ML, Xia F, et al. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet 2013;45:1405-1408.
2. Holm VA, Cassidy SB, Butler MG, et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993;91:398-402.
3. Soden SE, Saunders CJ, Willig LK, et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med 2014;6:265ra168.
4. Mejlachowicz D, Nolent F, Maluenda J, et al. Truncating mutations of MAGEL2, a gene within the Prader-Willi locus, are responsible for severe arthrogryposis. Am J Hum Genet 2015;97:616-620.
5. Kanber D, Giltay J, Wieczorek D, et al. A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet 2009;17:582-590.
6. Buiting K, Di Donato N, Beygo J, et al. Clinical phenotypes of MAGEL2 mutations and deletions. Orphanet J Rare Dis 2014;9:40.
7. Matarazzo V, Muscatelli F. Natural breaking of the maternal silence at the mouse and human imprinted Prader-Willi locus: a whisper with functional consequences. Rare Dis 2013;1:e27228.
8. Denizot S, Boscher C, Le Vaillant C, Rozé JC, Gras Le Guen C. Distal arthrogryposis and neonatal hypotonia: an unusual presentation of Prader-Willi syndrome (PWS). J Perinatol 2004;24:733-734.
9. Bigi N, Faure JM, Coubes C, et al. Prader-Willi syndrome: is there a recognizable fetal phenotype Prenat Diagn 2008;28:796-799.
10. Haugen G, Rønnestad A, Kroken M. Variations in fetal phenotype in Prader-Willi syndrome. Prenat Diagn 2009;29:294.
11. Miller JL, Lynn CH, Driscoll DC, et al. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A 2011;155A:1040-1049.
12. Bischof JM, Stewart CL, Wevrick R. Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome. Hum Mol Genet 2007;16:2713-2719.
13. Bennett JA, Germani T, Haqq AM, Zwaigenbaum L. Autism spectrum disorder in Prader-Willi syndrome: A systematic review. Am J Med Genet A 2015;167:2936-2944.
14. Meziane H, Schaller F, Bauer S, et al. An early postnatal oxytocin treatment prevents social and learning deficits in adult mice deficient for Magel2, a gene involved in Prader-Willi syndrome and autism. Biol Psychiatry 2015;78:85-94.
15. Fountain MD, Schaaf CP. Prader-Willi syndrome and Schaaf-Yang syndrome : neurodevelopmental diseases intersecting at the MAGEL2 gene. Diseases 2016;4. http://www.mdpi.com/2079-9721/4/1/2
16. Fountain MD Jr, Schaaf CP. MAGEL2 and Oxytocin-Implications in Prader-Willi Syndrome and Beyond. Biol Psychiatry 2015;78:78-80.