Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder

Autor: Chiho Yatsuga, Rio Mukasa, Takuro Kimura, Masayo Kagami, Takako Matsumoto, Yasutoshi Koga, Keiko Matsubara, Shuichi Yatsuga
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Zdroj: Clinical Case Reports
ISSN: 2050-0904
Popis: Temple syndrome (TS14), caused by abnormal gene expression of the imprinted genes at 14q32.2, is associated with nonspecific symptoms such as prenatal and postnatal growth failure, feeding difficulty, hypotonia, precocious puberty, obesity, and diabetes mellitus (DM).1, 2 Genetic causes of TS14 are paternal deletions and an epimutation affecting the 14q32.2 imprinted region, and maternal uniparental disomy of chromosome 14, which lead to hypomethylation of the intergenic differentially methylated region (IG‐DMR) and/or MEG3‐DMR.1 Nonspecific TS14 clinical features such as prenatal and postnatal growth failure, feeding difficulty, and hypotonia overlap with those of Prader‐Willi syndrome (PWS) and Silver‐Russell syndrome.1 Furthermore, some TS14 patients may not receive a diagnosis of TS14 due to nonspecific clinical features and almost normal intellectual development. Because all previously reported TS14 cases were detected in childhood or ascertained by familial studies of children with Kagami‐Ogata syndrome, which is an imprinting disorder as a mirror image of TS14,1, 2 long‐term prognosis of TS14 including the development of social behavior, language and learning ability, and communication skills remains to be clarified. Here, we report the clinical course of a male patient with clinical autism spectrum disorder (ASD) that received a diagnosis of TS14. This case study was approved by the Institutional Review Board Committee of Kurume University. Informed consent was obtained from the patient and the patient's parents.
Databáze: OpenAIRE
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