hrp0082p2-d1-571 | Sex Development | ESPE2014

Identification of a Missense MAP3K1 Mutation in a Patient with Hypospadias

Igarashi Maki , Horikawa Reiko , Nakabayashi Kazuhiko , Hata Kenichirou , Ogata Tsutomu , Fukami Maki

Background: Recently, eight MAP3K1 mutations have been identified in patients with 46,XY disorder of sex development (DSD), although detailed clinical findings of the mutation-positive patients remain to be investigated.Objective and hypotheses: To clarify the frequency and clinical consequences of MAP3K1 mutations.Method: Mutation screening of MAP3K1 were performed for 37 patients with 46,XY DSD. Phenoty...

hrp0082p2-d1-540 | Puberty and Neuroendocrinology | ESPE2014

A Novel Mutation at a Splice Acceptor Site of WDR11 in a Patient with Combined Pituitary Hormone Deficiency

Izumi Yoko , Suzuki Erina , Yatsuga Shuichi , Sano Shinichiro , Nakabayashi Kazuhiko , Umezawa Akihiro , Hata Kenichiro , Ogata Tsutomu , Fukami Maki , Yoshimura Yasunori

Background: WDR11 has recently been reported as one of the causative genes of hypogonadotropic hypogonadism (HH). To date, five missense mutations in WDR11 have been identified in six patients with normosmic isolated HH (nIHH) or Kallmann syndrome (KS).Methods: We performed mutation screening of WDR11 for 46 cases with various types of HH. RT-PCR was carried out for a patient with a mutation. The protein structure of the mutant...

hrp0089rfc15.2 | Growth and syndromes | ESPE2018

Molecular and Clinical Analyses of Two UPD(16)mat Patients Detected by Screening of 94 Silver-Russell Syndrome Patients without Known Etiology

Inoue Takanobu , Yagasaki Hideaki , Nishioka Junko , Nakamura Akie , Matsubara Keiko , Narumi Satoshi , Nakabayashi Kazuhiko , Yamazawa Kazuki , Fuke Tomoko , Oka Akira , Ogata Tsutomu , Fukami Maki , Kagami Masayo

Background: Maternal uniparental disomy of chromosome 16 (UPD(16)mat) is defined as the presence of two homologous chromosomes 16 inherited from only the mother. To our knowledge, 49 live-born UPD(16)mat patients without chromosomal abnormalities other than that in chromosome 16 have been reported. UPD(16)mat patients presented with non-specific clinical features such as preterm birth, growth retardation, congenital heart diseases (CHDs) and hypospadias. Silver-Russell syndrom...

hrp0097rfc2.2 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Familial pseudohypoparathyroidism type IB associated with an SVA retrotransposon insertion in the GNAS locus.

Kagami Masayo , Kawashima Sayaka , Yuno Akiko , Sano Shinichiro , Nakamura Akie , Ishiwata Keisuke , Kawasaki Tomoyuki , Hosomichi Kazuyoshi , Nakabayashi Kazuhiko , Akustu Hidenori , Saitsu Hirotomo , Fukami Maki , Usui Takeshi , Ogata Tsutomu

Loss of methylation (LOM) at GNAS-A/B:TSS-differentially methylated regions (DMRs) in the GNAS locus is observed in pseudohypoparathyroidism type 1B (PHP1B). Many PHP1B cases are sporadic, but autosomal dominant-PHP1B has a deletion involving NESP55 expressed from the maternal allele or STX16 located upstream of the GNAS locus on the maternal allele. We report the possible first familial PHP1B cases with retrotransposon insertion in the GNAS locus on the maternal allele. To ou...