Relationship between phenotype and genotype of 102 Chinese newborns with Prader-Willi syndrome.

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Tytuł:: Relationship between phenotype and genotype of 102 Chinese newborns with Prader-Willi syndrome.
Autorzy:: Ge MM; Department of Neonates, Children's Hospital, Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China.
Gao YY; Department of B Ultrasonography, Children's Hospital, Fudan University, Shanghai, China.
Wu BB; Clinical Genetic Center, Children's Hospital of Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China.
Yan K; Department of Neonates, Children's Hospital, Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China.
Qin Q; Clinical Genetic Center, Children's Hospital of Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China.
Wang H; Birth Defect Laboratory, Children's Hospital of Fudan University, Shanghai, China.
Zhou W; Department of Neonates, Children's Hospital, Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China. .; Birth Defect Laboratory, Children's Hospital of Fudan University, Shanghai, China. .
Yang L; Clinical Genetic Center, Children's Hospital of Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China. yanglin_.
Źródło:: Molecular biology reports [Mol Biol Rep] 2019 Oct; Vol. 46 (5), pp. 4717-4724. Date of Electronic Publication: 2019 Jul 03.
Typ publikacji:: Journal Article
Język:: English
Imprint Name(s):: Original Publication: Dordrecht, Boston, Reidel.
MeSH Terms:: Genetic Association Studies*/methods
Genotype*
Phenotype*
Asian People/*genetics
Prader-Willi Syndrome/*diagnosis
Prader-Willi Syndrome/*genetics
China ; Chromosome Deletion ; DNA Methylation ; Female ; Genetic Testing ; Gray Matter/diagnostic imaging ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Neuroimaging ; RNA, Small Nucleolar/genetics ; Uniparental Disomy
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Grant Information:: 20184Y0132 Shanghai Health and Family Planning Commission Research Project; 2016YFC0905100 the National Key Research and Development Program of China; GDEK201701 the Shanghai Municipal Commission of Health and Family Planning; SHDC12017110 the Shanghai Shen Kang Hospital Development Center
Contributed Indexing:: Keywords: Clinical manifestation; Genotype; Image; Newborn; Prader–Willi syndrome
Substance Nomenclature:: 0 (RNA, Small Nucleolar)
0 (SNORD116 RNA, human)
Entry Date(s):: Date Created: 20190705 Date Completed: 20200212 Latest Revision: 20221207
Update Code:: 20240105
DOI:: 10.1007/s11033-019-04916-2
PMID:: 31270759
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High rates of misdiagnosis and delayed intervention in neonatal PWS are leading to poor prognoses. To determine the clinical and image characteristics of newborns with Prader-Willi syndrome (PWS). A total of 102 cases of newborns definitively diagnosed with PWS at the Children's Hospital of Fudan University from 02/2014 to 12/2017 were retrospectively analyzed. We analyzed the modulated voxel-based morphology (VBM) of gray matter in PWS by T2 weighted imaging. Of 102 cases, 75 (73.5%) have paternal deletion of 15q11.2-q13, whereas 27 (26.5%) have maternal uniparental disomy (UPD). Of the 75 deletion cases, 75 (100%) week crying, 71 (94.7%) hypotonia, 70 (93.3%) poor feeding, 46 (61.3%) hypopigmentation, 43 (57.3%) male cryptorchidism, 10 (13.3%) female labia minora, 48 (64%) characteristic facial features. Of 27 UPD cases, 27 (100%) week crying and hypotonia, 25 (92.6%) hypophagia, 20 (74.1%) male cryptorchidism, 1 (3.7%) female labia minora, 19 (70.4%) characteristic facial features, 12 (44.4%) hypopigmentation. The modulated VBM analysis shows that the middle frontal gyrus, orbitofrontal cortex (middle), and inferior frontal gyrus are the most variable brain regions that determine the endo-phenotype difference between the two genotypes. Hypotonia, hypophagia, and maldevelopment of sexual organs are general characteristics of newborns with PWS in Chinese population. In UPD cases, the proportions of premature newborns, elderly parturient women and congenital malformations were higher than for paternal deletion cases. The differences in the gray matter volume of these three regions between the two genotypes may explain the differences in maladaptive behaviors and emotions.

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