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hrp0092rfc15.5 | Late Breaking Abstracts | ESPE2019

De novo Missense Mutation in SP7 in a Patient with Cranial Hyperostosis, Long Bone Fragility, and Increased Osteoblast Number

Raimann Adalbert , Lui Julian C , Roschger Paul , Wintergerst Uwe , Klaushofer Klaus , Stelzl Robert , Biedermann Rainer , Laccone Franco , Fratzl-Zelman Nadja , Hojo Hironori , Dong Lijin , Jee Youn Hee , Baron Jeffrey , Haeusler Gabriele

Background: Sp7, also known as Osterix (Osx), is a zinc-finger transcription factor, essential for osteoblast differentiation and bone formation. While bone formation is absent in Osx knockout mice, human loss of function mutations lead to impaired bone formation and cause recessive osteogenesis imperfecta, type XII (OMIM 613849 ).Case: The 5-year-old son of non-consanguineous parents presented with multiple long bone fr...

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hrp0092fc15.1 | Late Breaking Abstracts | ESPE2019

DLG2 Mutations in Patients with Delayed or Absent Puberty

Jee Youn Hee , Won Sehoon , Lui Julian C. , Jennings Melissa , Whalen Philip , Yue Shanna , Cheetham Tim , Boden Matthew G. , Radovick Sally , Quinton Richard , Leschek Ellen W. , Aguilera Greti , Yanovski Jack A. , Seminara Stephanie B. , Roche Katherine W. , Crowley William F. , Delaney Angela , Baron Jeffrey

NMDA (N-Methyl-D-aspartic acid) receptors have been shown to control the timing of sexual maturation in laboratory animals. Therefore, variants in genes impacting NMDA receptor signaling might be predicted to affect human puberty. We studied an extended family with extremely delayed puberty (menarche at 16.5 - 18 years for female family members and pubertal onset at 16 years for male family members). Exome sequencing revealed a rare missense variant (F900V) in DLG2, w...

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ESPE Abstracts

De novo Missense Mutation in SP7 in a Patient with Cranial Hyperostosis, Long Bone Fragility, and Increased Osteoblast Number

DLG2 Mutations in Patients with Delayed or Absent Puberty

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