hrp0092p1-140 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Methylation Status of X Inactivation-Escape Genes in Controls and Females with X Chromosome Rearrangements

Kawashima Sayaka , Matsubara Keiko , Toki Machiko , Kosaki Rika , Hasegawa Yukihiro , Fukami Maki , Kagami Masayo

Context: X chromosome inactivation (XCI) is a process in which one of the two X chromosomes in a female is randomly inactivated in order to correct gene dosage between males and females. However, about 15% of genes escape from XCI (termed escapees), and 10% of genes are variably inactivated (variable genes). The mechanism of inactivation and escape remains to be revealed. The promoter regions of escapees are hypomethylated compared to those of the inac...

hrp0089p2-p272 | Growth & Syndromes P2 | ESPE2018

Mild Autistic Spectrum Disorder in a 33 Year-old Male Japanese Patient with Temple Syndrome

Yatsuga Shuichi , Kagami Masayo , Matsubara Keiko , Kimura Takuro , Yatsuga Chiho , Mukasa Rio , Matsumoto Takako , Koga Yasutoshi

Introduction: Temple syndrome (TS14) caused by maternal uniparental disomy chromosome 14 (UPD(14)mat), paternal deletions and the imprinting defect affecting the 14q32.2 imprinted region is associated with non-specific symptoms such as growth failure, precocious puberty, obesity, and diabetes mellitus (DM). Some TS14 cases are misdiagnosed as having Prader–Willi syndrome (PWS). In TS14, patient’s intelligence quotient (IQ) is usually normal, and autism spectrum disor...

hrp0084p1-90 | Growth | ESPE2015

Silver-Russell Syndrome without Body Asymmetry in Three Patients with Duplications of Maternally Derived Chromosome 11p15 Involving CDKN1C

Nakashima Shinichi , Kato Fumiko , Kosho Tomoki , Nagasaki Keisuke , Kikuchi Toru , Kagami Masayo , Fukami Maki , Ogata Tsutomu

Background: Silver-Russell syndrome (SRS) is a congenital developmental disorder characterised by pre- and post-natal growth failure, relative macrocephaly, hemihypotrophy, and fifth-finger clinodactyly. Recent studies have shown that gain-of-function mutations of CDKN1C result in IMAGe syndrome (IMAGeS) characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and male genital abnormalities, whereas less severe gain-of-function mut...

hrp0092rfc12.3 | Growth and Syndromes (to include Turner syndrome) | ESPE2019

Imprinting Defects and Copy Number Variations in Short Children Born Small for Gestational Age

Kagami Masayo , Nakamura Akie , Inoue Takanobu , Kawashima Sayaka , Hara Kaori , Fuke Tomoko , Mastubara Keiko , Fukami Maki , Ogata Tsutomu

Abnormal expression of imprinted genes leads to imprinting disorders (IDs). Silver-Russell syndrome (SRS) and Prader-Willi syndrome (PWS) are representative IDs showing small for gestational age and short stature (SGA-SS).Temple syndrome (TS14) caused by abnormal gene expression at the 14q32.2 imprinted region, maternal uniparental disomy of chromosome 6 (UPD(6)mat), 16 (UPD(16)mat), and 20 (UPD(20)mat) are also associated with SGA-SS. Fuethermore, some copy number variations ...

hrp0097t1 | Section | ESPE2023

Molecular and clinical studies in 84 patients with pseudohypoparathyroidism type 1B.

Urakawa Tatsuki , Sano Shinichiro , Narusawa Hiromune , Kawashima Sayaka , Nakamura Akie , Matsubara Keiko , Dateki Sumito , Fukami Maki , Ogata Tsutomu , Kagami Masayo

Context: Pseudohypoparathyroidism type 1B (PHP1B) caused by methylation defects of differentially methylated regions (DMRs) on the GNAS locus can be categorized into groups according to etiologies and methylation defect patterns of the DMRs. However, there are no reports evaluating the clinical differences in detail, such as diagnostic features at onset and Albright’s hereditary osteodystrophy (AHO) features, among the groups.<stro...

hrp0092t16 | Top 20 Poster | ESPE2019

IGF2 Mutations: Report of Six Japanese Cases and Phenotypic Comparison with H19/IGF2:IG-DMR Epimutations Including Literature Cases

Masunaga Yohei , Inoue Takanobu , Yamoto Kaori , Fujisawa Yasuko , Sato Yasuhiro , Kawashima-Sonoyama Yuki , Ohata Yasuhisa , Namba Noriyuki , Fukami Maki , Saitsu Hirotomo , Kagami Masayo , Ogata Tsutomu

Object: IGF2 is a paternally expressed gene involved in the development of Silver-Russell syndrome (SRS). Here, we report six Japanese patients with IGF2 mutations and compare clinical findings between patients with IGF2 mutations including literature cases and those with H19/IGF2:IG-DMR epimutations.Patients: We recruited six Japanese patients with IGF2 mutations. Th...

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...

hrp0084p1-95 | Growth | ESPE2015

Various Imprinting Disorders Underlying Silver-Russell Syndrome-Compatible Phenotype

Kagami Masayo , Matsubara Keiko , Sano Shinichiro , Nakamura Akie , Mizuno Seiji , Hamajima Naoki , Yanagisawa Atsuhiro , Hashimoto Miyuki , Yukote Akira , Fukami Maki , Ogata Tsutomu

Background: Silver-Russell syndrome (SRS) is a rare congenital developmental disorder characterised by pre- and postnatal growth failure, relative macrocephaly, triangular face, hemihypotrophy, and fifth finger clinodactyly. Hypomethylation of the H19-DMR and maternal uniparental disomy chromosome 7 (UPD(7)mat) were identified in about 30 and 10% of SRS patients respectively. Genetic causes of the remaining 60% of the patients are unknown. Growth failure, small hands, and hypo...

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...

hrp0089p1-p186 | Growth &amp; Syndromes P1 | ESPE2018

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Six Patients

Kawashima Sayaka , Nakamura Akie , Inoue Takanobu , Matsubara Keiko , Horikawa Reiko , Wakui Keiko , Takano Kyoko , Fukushima Yoshimitsu , Tatematsu Toshi , Mizuno Seiji , Tsubaki Junko , Kure Shigeo , Matsubara Yoichi , Ogata Tsutomu , Nagasaki Keisuke , Fukami Maki , Kagami Masayo

Context: Maternal uniparental disomy for chromosome 20 (UPD(20)mat) resulting in aberrant expression of imprinted transcripts at the GNAS locus is a poorly characterized condition. Only 10 non-mosaic cases have been studied clinically. These patients presented with pre- and post-natal growth failure and feeding difficulties. The phenotype of these cases overlapped with that of Silver-Russell syndrome (SRS) and small for gestational age-short stature (SGA-SS); however, the etio...