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Endocrine Abstracts (2019) 63 GP39 | DOI: 10.1530/endoabs.63.GP39

ECE2019 Guided Posters Metabolic Syndrome and Hypoglycaemia (11 abstracts)

Generalized lipodystrophy associated with delayed neuro-somatic development and multiple dysmorphisms in a neonate with a compound heterozygous missense mutation in the SYNE2 gene

Caterina Pelosini 1, , Giovanni Ceccarini 2 , Paolo Aretini 3 , Francesca Lorenzoni 4 , Silvia Magno 2 , Maria Adelaide Caligo 5 , Maria Rita Sessa 1 , Federica Ferrari 2 , Paolo Ghirri 4 & Ferruccio Santini 6

1Chemistry and Endocrinology Laboratory – University Hospital of Pisa, Pisa, Italy; 2Obesity and Lipodystrophy Center – University Hospital of Pisa, Pisa, Italy; 3Fondazione Pisana per la Scienza ONLUS, Pisa, Italy; 4Neonatology Unit – University Hospital of Pisa, Pisa, Italy; 5Molecular Genetics Laboratory, Santa Chiara University Hospital, Pisa, Italy; 6Obesity and Lipodystrophy Center – University Hospital of Pisa, Pisa, Italy.

Generalized lipodystrophies are extremely rare diseases. Despite remarkable progress in identifying genes responsible for the most common forms of genetic lipodystrophies, the molecular basis of disease in some patients with distinctive phenotypes remains unclear. We herein describe the case of a male patient born from non-consanguineous parent affected by a syndrome characterized by generalized lipodystrophy, psycho-somatic growth retardation, cleft palate, macroglossia, right cryptorchidism, fingers with extended base and short femurs. In the third month of life, an abnormally increased appetite, the lack of weight growth and the dystrophic appearance became very evident. Moreover the ultrasound analysis revealed hepatic steatosis and blood test howed high triglyceride values (up to 1577 mg/dl), low serum leptin levels (0.1 ng/ml). Based on patient’s clinical features, instrumental and laboratory results, Berardinelli-Seip syndrome was initially hypothesized. The entire coding region of candidate genes involved in congenital generalized lipodystrophy (BSCL1, AGPAT2, CAV1, PTRF) and other forms of lipodystrophy (LMNA) were sequenced by Sanger method but no mutations were found. To have a better insight on the possible genetic alterations causing the disease, we performed exome sequencing using Illumina NextSeq500. After data filtering and segregation analysis, we identified compound heterozygous missense variants in the spectrin repeat containing nuclear envelope protein 2 gene (SYNE2):c.18632C> T (p.T89M) and c.20410G> A (p.D326N). The first genetic variant is shared with the father, the second one with the mother. The mutation p.T89M is classified as patogenetic for Emery-Dreyfuss muscular dystrophy (EDMD) in ClinVar Database, and it was previously reported in two families with EDMD. In conclusion we describe a likely novel syndrome characterized by generalized lipodystrophy, severe delayed psycho somatic development and multiple dysmorphisms, possibly related to a compound heterozygous missense mutation in the SYNE2 gene.

Volume 63

21st European Congress of Endocrinology

Lyon, France
18 May 2019 - 21 May 2019

European Society of Endocrinology 

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