ESPE Abstracts

Background: In developing countries, due to the lack of medical resources, it is necessary to do the preliminary diagnosis of Bartter syndrome and Gitelman syndrome according to the existing clinical data rather than the genetic testing. Is clinical diagnosis consistent with the gene diagnosis?Objective and hypotheses: To summarise the children’s clinical features, furosemide/hydrochlorothiazide loading test and genotype of Bartter syndrome and Gite...

Background: Schaaf-Yang syndrome is caused by heterozygous mutation in the MAGEL2 gene (605283) on chromosome 15q11. Schaaf-Yang Syndrome is an autosomal dominant multisystem disorder characterized by psychomotor and mental retardation, hypotension, and behavioral abnormalities. Additional signs include joint contractures, feeding difficulties and various dysmorphic features. The severity of the disorder varies greatly: some patients may live with moderate dis...

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, being the intellectual disability, developmental delay, autism spectrum disorder, neonatal hypotonia, infantile feeding problem...

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...

Background/Aims: Schaaf-Yang syndrome (SYS) is a rare disorder caused by a truncating mutation in the gene MAGEL2, located in the Prader-Willi critical region on chromosome 15. SYS is characterized as a Prader-Willi-like (PWL) disorder, with neonatal hypotonia, feeding problems in early infancy and intellectual disability, obesity and behavioral problems throughout childhood. In this case report we describe a 15-year-old girl, receiving GH treatment since age ...

Background: Paternally expressed mono-allelic pathogenic variants in the MAGEL2 (melanoma antigen L2) gene cause Schaaf-Yang syndrome (SHFYNG), a multisystem disorder with psychomotor delay, intellectual disability, behavioral abnormalities, and obesity. Severity of the disease is highly variable, some patients may die in utero and some can live with moderate disabilities. MAGEL2 gene is located in the 15q11.2– q13 region which includes...

Background: It is not yet clear whether the adult height (AH) is affected by the onset of puberty at 6 or 7 years old in girl in China.Objective and hypotheses: To evaluate AH in girl with the onset of puberty at 6 or 7 years old.Method: The standard of AH in girl was considered that their bone ages were equal to (or greater than) 15 years old or they were at least 3 years post-menarche. Eighty-two girls with the onset of puberty a...

Background: Beta-ketothiolase deficiency is a rare autosomal recessive disease caused by ACAT1 gene mutation. Only 100 cases have been reported up to now.Methods: Among the 13 patients, four were diagnosed in our institute, and 9 were from a literature review of all reported Chinese cases. Two patients were diagnosed with newborn screening, and the others were diagnosed after ketoacidotic episodes. Clinical characteristics, laboratory and molecu...

Background: Given the absence of a systematic evaluation of general public’ attitudes towards the storage and use of newborn screening (NBS) blood samples for research in China, we firstly conducted this internet-based survey to explore these issues.Methods: We conducted a national-based internet survey with self-designed questionnaire. We mainly studied three categories: 1) the willingness to have their children’s residual NBS samples used for...

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 ...