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ey0020.3-13 | Translational Highlights | ESPEYB20

3.13. Loss-of-function variant in SPIN4 causes an X-linked overgrowth syndrome

JC Lui , J Wagner , E Zhou , L Dong , KM Barnes , YH Jee , J Baron

In Brief: These authors identify a frameshift truncating variant in the gene SPIN4 (Spindlin member 4) in a patient with skeletal overgrowth, hepatosplenomegaly and macrocephaly. Using state-of-the-art mouse models and histone peptide arrays, they delineate the underlying pathogenic mechanism and show that SPIN4 positively regulates Wnt signalling by functioning as an epigenetic reader.Commentary: Generalized overgrowth disorders are ch...

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ey0015.6-16 | When should an extensive genetic investigation be performed? | ESPEYB15

6.16 Family history is under-estimated in children with isolated hypospadias: a French multicenter report of 88 families

M Ollivier , F Paris , P Philibert , S Garnier , A Coffy , N Fauconnet-Servant , M Haddad , JM Guys , R Reynaud , A Faure , T Merrot , K Wagner , J Bréaud , JS Valla , E Dobremez , L Gaspari , JP Daures , C Sultan , N Kalfa

To read the full abstract: J Urol. 2018 Apr 30. pii: S0022-5347(18)43073-X[Comments on 6.15 and 6.16] There is ongoing discussion regarding when extended genetic tests are indicated in DSD. There is also a discussion regarding what should be included in the definition of DSD. Are mild forms of hypospadias a type of DSD and where sho...

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ey0021.14-2 | Basic Biology and Molecular Mechanisms | ESPEYB21

14.2. Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation

S Young , C Schiffer , A Wagner , J Patz , A Potapenko , L Herrmann , V Nordhoff , T Pock , C Krallmann , B Stallmeyer , A Ropke , M Kierzek , C Biagioni , T Wang , L Haalck , D Deuster , JN Hansen , D Wachten , B Risse , HM Behre , S Schlatt , S Kliesch , F Tuttelmann , C Brenker , T. Strunker

Short summary: This study examined ex vivo the function of the sperm-specific CatSper-channel in almost 2300 men undergoing investigation for infertility. In 9 infertile men with normal semen analysis but pathologic sperm motility, biallelic variants in genes forming the CatSper-channel were found, either in CATSPER2 or CATSPERE. These men and their partners failed to conceive naturally and medically assisted reproduction (MAR) was successful only via intracytoplasmic...

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ESPE Yearbook of Paediatric Endocrinology

3.13. Loss-of-function variant in SPIN4 causes an X-linked overgrowth syndrome

6.16 Family history is under-estimated in children with isolated hypospadias: a French multicenter report of 88 families

14.2. Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation

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