hrp0092rfc12.4 | Growth and Syndromes (to include Turner syndrome) | ESPE2019

NIPBL is Required for Postnatal Growth and Neural Development

zou chaochun , wu xiaohui

Cornelia de Lange syndrome (CdLS) is a multisystem organ developmental disorder characterized by growth and cognitive deficits and premature aging, caused by mutations in genes coding for the cohesin complex. CdLS cells presented with gene expression dysregulation, genomic instability, decreased energy production and oxidative stress. Variants in the cohesin loading factor Nipped-B-like (NIPBL) gene can be identified in approximately 70% of cases and the ...

hrp0092p1-343 | Fat, Metabolism and Obesity (2) | ESPE2019

Perinatal Features of Prader-Willi Syndrome: A Chinese Cohort

Yang Lili , Zou Chaochun

Background: Prader-Willi syndrome (PWS) is a rare complex genetic disorder caused by an absence of expression of imprinted genes on the paternally derived chromosome 15q11-q13 region. This study aimed to characterize the perinatal features in a cohort of Chinese individuals with PWS.Methods: We analyzed anonymous data of 134 patients from the PWS Registry in China. Perinatal and neonatal presentations were analyzed, and ...

hrp0092p2-135 | Fat, Metabolism and Obesity | ESPE2019

Clinical and Cytogenetic Analysis on Two Chinese Familial Cases of Prader-Willi Syndrome with Multiple Affected Patients

Yunqi Chao , Chaochun Zou

Prader–Willi Syndrome (PWS [MIM 176270]) is a rare neurogenetic disorder mapping to the chromosome 15q11-q13 domain, which results from the genetic and epigenetic function deficiency of genomic imprinting of paternal alleles. It is characterized by neonatal hypotonia with following childhood obesity, hyperphagia, developmental delay and short stature, hypogonadism, cognitive impairment, and behavioral problems. PWS is generally sporadic that occurs in about 1 in 10 000 to...

hrp0092p3-169 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Schaaf-Yang Syndrome:Three Cases Report of MAGEL2 Variation and Literature Review

Xuefei Chen , Chaochun Zou

Objective: To highlight the clinical characteristics and early genetic diagnosis of Schaaf-Yang syndrome (SYS).Methods: Three cases were reported and related literature were reviewed.Results: All the three patients were diagnosed with Schaaf-Yang syndrome attributing to the variation of MAGEL2 gene. Two of the patients predominantly presented as "language dysplasia&#34...

hrp0097p1-111 | Growth and Syndromes | ESPE2023

The phenotypic spectrum of Kenny-Caffey type 2: a case series and literature review

Chen Xuefei , Zou Chaochun

Context: Kenny–Caffey syndrome (KCS) is a rare condition characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of the anterior fontanelle, ocular and dental anomalies, and variable hypocalcemia due to hypoparathyroidism. KCS is classified into two types according to its clinical features and inheritance pattern. KCS Type 2 (KCS2) is caused by mutations in FAM111A and is distinguished fr...

hrp0097lb12 | Late Breaking | ESPE2023

Dysregulated adipose tissue expansion and impaired adipogenesis in Prader-Willi syndrome children before obesity-onset

Chao Yunqi , Zou Chaochun

Objective: Prader-Willi syndrome (PWS) is a rare genetic imprinting disorder resulting from the expression loss of genes on the paternally inherited chromosome 15q11-13. Early-onset life-thriving obesity represents the PWS clinical hallmarks. The noncoding RNA gene SNORD116 within the minimal PWS genetic lesion plays a critical role in the pathogenesis of the syndrome. Despite advancements in understanding the genetic basis for PWS, the pathophysiology of obes...

hrp0097p2-257 | Late Breaking | ESPE2023

A cohort study on growth hormone therapy in Chinese children with Prader-Willi syndrome – the effect of treatment age

Zho Qiong , Zou Chaochun

Background: Prader-Willi syndrome (PWS) is a rare multisystemic genetic disorder. Recombinant human growth hormone (rhGH) therapy is the most established form of treatment for PWS. This study aimed to investigate the effect of rhGH treatment age on the treatment outcome of children with PWS.Methods: A retrospective analysis of 167 genetically confirmed Chinese children with PWS followed between 2017 and 2022. Unadjusted ...

hrp0089p3-p406 | Growth & Syndromes P3 | ESPE2018

Two Siblings with Prader-Willi Syndrome Caused by Microdeletion Derived from the Paternal Grandmother

Dong Guanping , Dai Yangli , Huang Ke , Zou Chaochun , Chen Xuefeng

Prader-Willi syndrome (PWS) is a complex neurobehavioral disorder characterized by infantile significant hypotonia and feeding difficulties, followed by morbid obesity secondary to hyperphagia, short stature, functionally deficient gonads, intellectual disabilities and behavioral problems. It is caused by lack of expression of imprinting genes on the paternally inherited chromosome 15q11.2-q13 region. The genetic mechanism responsible for Prader-Willi syndrome can rarely be in...

hrp0092p1-90 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Quality of Life in Caregivers of Young Children with Prader-Willi Syndrome

Mao Shujiong , Shen Jian , Yang Lili , Yang Rongwang , Zou Chaochun , Zhao Zhengyan

Objective: This study was to measure quality of life (QOL) of the primary caregivers for young children with Prader-Willi syndrome (PWS).Methods: The children with PWS consisted of 32 children. The QOL of the caregiver for each patient was assessed using the Chinese version of the WHOQOL-BREF, and the Infants-Junior Middle School Students' Social-Life Abilities Scale was used to evaluate the social adaption capacity ...