2020
DOI: 10.1097/md.0000000000023864
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Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia

Abstract: Schaaf-Yang syndrome (SYS) is a recently identified disorder caused by a loss-of-function mutation in a maternally imprinted gene, MAGEL2 , at 15q11.2q13. Due to its extreme rarity and wide range of clinical severity, clinical suspicion is difficult for a physician. In the current study, its frequency among the Korean pediatric patients with developmental delay (DD) or intellectual disability (ID) was assessed. As the first report of Korean patients with SYS, our study aims to increase t… Show more

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Cited by 6 publications
(4 citation statements)
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“…Together with the 11 patients in our study, data from a total of 127 patients with SYS were pooled and were available for analysis. We numbered patients according to the literature sources: 1–91 [ 8 ], 92–95 [ 23 ], 96 [ 24 ], 97–102 [ 6 ], 103–104 [ 9 ], 105–108 [ 11 ], 109 [ 25 ], 110 [ 26 ], 111 [ 27 ], 112–115 [ 28 ], 116 [ 29 ] and 117–127 (New).…”
Section: Resultsmentioning
confidence: 99%
See 1 more Smart Citation
“…Together with the 11 patients in our study, data from a total of 127 patients with SYS were pooled and were available for analysis. We numbered patients according to the literature sources: 1–91 [ 8 ], 92–95 [ 23 ], 96 [ 24 ], 97–102 [ 6 ], 103–104 [ 9 ], 105–108 [ 11 ], 109 [ 25 ], 110 [ 26 ], 111 [ 27 ], 112–115 [ 28 ], 116 [ 29 ] and 117–127 (New).…”
Section: Resultsmentioning
confidence: 99%
“…Neurodevelopmental delay with unexplained dyspnea is clinically extremely hazardous, leading to death in the neonatal period of SYS patients [ 9 , 10 ]. As SYS does not comply with Mendelian inheritance laws and the underlying pathological mechanisms and genotype–phenotype correlations remain to be elucidated, clinical suspicion of SYS in the differential diagnosis in pediatric patients with hypotonia and developmental delay/intellectual disability is not high because of the physicians’ unfamiliarity [ 11 ].…”
Section: Introductionmentioning
confidence: 99%
“…The c.1996dup (p.Q666fs) variant of MAGEL2 is the most common causative variant found in approximately half of known individuals with SYS 2) . In Korea, four cases of SYS have been reported, with two patients harboring the variant c.1996dup 5) . In the present report, a heterozygous truncating variant of c.2895G>A (p.Trp965*) in MAGEL2 was detected by WES, which was found to be a de novo variant by Sanger sequencing of samples from both parents.…”
Section: Discussionmentioning
confidence: 99%
“…In contrast, non-sense or frameshift mutations in the paternal allele of MAGEL2 are predicted to encode a truncated protein lacking the MAGE Homology Domain (MHD) and have been associated with SYS 1. Since then, over a hundred patients with SYS have been reported and phenotypically described 1–28. Patients with SYS and PWS show overlapping clinical phenotypes, including neonatal hypotonia, intellectual disability (ID), developmental delay (DD), early feeding difficulties, endocrinological disturbances (hypogonadism and other hormonal imbalances) and sleep disorders.…”
Section: Introductionmentioning
confidence: 99%