Shuntaro Morikawa

Hokkaido University Hospital

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TSH,FT4同時測定による新生児マス・スクリーニングで発見された甲状腺ホルモン不応症の2例

Yamaguchi Takashi Shuntaro Morikawa Katsura Ishizu Usui Ken Toshihiro Tajima

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Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of <i>NR3C2</i>

Clinical Pediatric Endocrinology (2015)

Shuntaro Morikawa Nagisa Komatsu Sonoko Sakata Akari Nakamura‐Utsunomiya Satoshi Okada

Pseudohypoaldosteronism type 1 (PHA1) is a disease characterized by neonatal salt loss due to aldosterone resistance. Two types of PHA1 are known: an autosomal recessive systemic form and an autosomal dominant renal form. The cause of the renal form of PHA1 is heterozygous mutations in NR3C2, which encodes the mineralocorticoid receptor (MR). We encountered two female Japanese infants with the renal form of PHA1 and analyzed NR3C2. The two patients had poor weight gain, and one was developmentally delayed. Genetic analysis identified one novel mutation (c.492_493insTT, p.Met166LeufsX8) and one previously reported mutation (p.R861X). The two produced a premature stop codon, resulting in haploinsufficiency of the MR. In conclusion, genetic analysis of NR3C2 is useful for diagnosis and planning therapeutic strategies.

Pseudohypoaldosteronism

Haploinsufficiency

10.1297/cpe.24.135

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Targeted next-generation sequencing for congenital hypothyroidism with positive neonatal TSH screening_Supplemental_Data

Figshare (2020)

Takeshi Yamaguchi Akie Nakamura Katsura Ishizu Nozomi Hishimura Shuntaro Morikawa

Genetic analysis of 24 causative genes using next-generation sequence in 167 Japanese patients. We identified 178 variants in 66.5% (111/167) cases in the fifteen genes, DUOX2, TSHR, PAX8, TG, TPO, DUOXA2, JAG1, GLIS3, DUOX1, IYD, SLC26A4, SLC5A5, SECISBP2, DIO1, and DIO3.

Congenital hypothyroidism

10.6084/m9.figshare.11876388

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Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to theAVPR2Mutations

Case Reports in Pediatrics (2018)

Noriko Namatame-Ohta Shuntaro Morikawa Akie Nakamura Kumihiro Matsuo Masahide Nakajima

Almost 90% of nephrogenic diabetes insipidus (NDI) is caused by mutations in the arginine vasopressin receptor 2 gene (AVPR2) on the X chromosome. Herein, we reported clinical and biochemical parameters in four cases of three unrelated Japanese families and analyzed the status of the AVPR2. Two of the four patients had poor weight gain. However, in the male and female sibling cases, neither had poor weight gain while toddlers, but in the male sibling, episodes of recurrent fever, polyuria, and polydipsia led to the diagnosis of NDI at 4 years of age. Analysis of AVPR2 identified two nonsense mutations (c.299_300insA; p.K100KfsX91 and c.296G > A; p.W99X) and one missense mutation (c.316C > T; p.R106C). These mutations were previously reported. The patient with c.316C > T; p.R106C had milder symptoms consistent with previous reports. Of the familial cases, the sister was diagnosed as having NDI, but a skewed X-inactivation pattern in her peripheral blood lymphocytes was not identified. In conclusion, our study expands the spectrum of phenotypes and characterized mutations in AVPR2 in NDI.

Nephrogenic diabetes insipidus

Polyuria

Polydipsia

10.1155/2018/6561952

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57. Spontaneous Occurrence of Adenocarcinoma of the Uterus and Suppression of Cytotoxicity in Neonatally Androgenized SD Rats

日本産科婦人科學會雜誌 (1985)

Shuntaro Morikawa B Takeda H Takamizawa

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(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty

Human Genome Variation (2019)

Erina Suzuki Hirohito Shima Masayo Kagami Shun Soneda Toshiaki Tanaka

Abstract We sequenced MKRN3 , the major causative gene of central precocious puberty in Western countries, in 24 Japanese or Chinese patients and examined the DNA methylation and copy-number statuses of this gene in 19 patients. We identified no (epi)genetic defects except for one previously reported mutation. These results, together with reports from Korea, indicate that MKRN3 defects are rare in Asian populations. The ethnic differences likely reflect Western country-specific founder mutations and the rarity of de novo mutations.

Central precocious puberty

Ethnic chinese

10.1038/s41439-019-0039-9

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Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1

American Journal of Medical Genetics Part A (2015)

Osamu Kawano Akie Nakamura Shuntaro Morikawa Kimiaki Uetake Katsura Ishizu

Spondyloepiphyseal dysplasia congenita (SEDC) is a group of rare inherited chondrodysplasias characterized by short stature, abnormal epiphyses, and flattened vertebral bodies. SEDC is usually caused by substitution of glycine residue with another amino acid in the triple helical domains of alpha 1 chains, which consist of type II collagen ( COL2A1 ). Herein, we describe a unique case of SEDC with mild coxa vara (SEDC‐M) caused by double de novo COL2A1 mutations located on the same allele. One mutation, p.G504S, was previously described in patients with SEDC, whereas the other, p.G612A, was a novel mutation; both were located in the triple helical domain. Neither mutation was identified in the parents and appeared to be de novo. To the best of our knowledge, this is the first study involving a patient with a type II collagenopathy with two COL2A1 mutations on the same allele. The case was characterized by a more severe phenotype compared with previously reported cases involving a single p.G504S mutation, which may have been the result of the double mutation. © 2015 Wiley Periodicals, Inc.

Osteochondrodysplasia

10.1002/ajmg.a.37073

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A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation

Journal of Pediatric Endocrinology and Metabolism (2018)

Takeshi Yamaguchi Tomoyuki Hothubo Shuntaro Morikawa Akie Nakamura Toshihiko Mori

Abstract Background: IGSF1 abnormality causes diverse symptoms, including congenital central hypothyroidism (CCH), prolactin hyposecretion, testicular enlargement and delayed puberty. Case presentation: Here, we report a case of a male patient who visited our hospital with a chief complaint of abdominal pain and short stature, in whom we identified a novel IGSF1 mutation. He was closely examined because of chronic constipation since infancy, persistent abdominal pain at 14 years of age and marked short stature (−4.7 standard deviation [SD] for normal Japanese boys). He was diagnosed with CCH. Decreased prolactin (PRL) secretion was also observed. IGSF1 analysis revealed a novel mutation at the splicing donor site (c.2065+1G>A) in intron 11. In silico analysis predicted this mutation to be a non-functional splice donor site. After thyroid hormone replacement, his thyroid function, constipation and growth rate improved. Conclusions: This is the first report of a patient in whom constipation and short stature led to a diagnosis of CCH with a novel IGSF1 mutation.

Abnormality

10.1515/jpem-2017-0144

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Neonatal screening and a new cause of congenital central hypothyroidism

Annals of Pediatric Endocrinology & Metabolism (2014)

Toshihiro Tajima Akie Nakamura Shuntaro Morikawa Katsura Ishizu

Congenital central hypothyroidism (C-CH) is a rare disease in which thyroid hormone deficiency is caused by insufficient thyrotropin (TSH) stimulation of a normally-located thyroid gland. Most patients with C-CH have low free thyroxine levels and inappropriately low or normal TSH levels, although a few have slightly elevated TSH levels. Autosomal recessive TSH deficiency and thyrotropin-releasing hormone receptor-inactivating mutations are known to be genetic causes of C-CH presenting in the absence of other syndromes. Recently, deficiency of the immunoglobulin superfamily member 1 (IGSF1) has also been demonstrated to cause C-CH. IGSF1 is a plasma membrane glycoprotein highly expressed in the pituitary. Its physiological role in humans remains unknown. IGSF1 deficiency causes TSH deficiency, leading to hypothyroidism. In addition, approximately 60% of patients also suffer a prolactin deficiency. Moreover, macroorchidism and delayed puberty are characteristic features. Thus, although the precise pathophysiology of IGSF1 deficiency is not established, IGSF1 is considered to be a new factor controlling growth and puberty in children. Keywords: Congenital hypothyroidism (CH), Neonatal screening, Thyrotropin (TSH), IGSF1

Central hypothyroidism

Congenital hypothyroidism

Pathophysiology

Cretinism

10.6065/apem.2014.19.3.117

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A soluble endoplasmic reticulum factor as regenerative therapy for Wolfram syndrome

Laboratory Investigation (2020)

Jana Mahadevan Shuntaro Morikawa Takuya Yagi Damien Abreu Simin Lu

Endoplasmic reticulum (ER) stress-mediated cell death is an emerging target for human chronic disorders, including neurodegeneration and diabetes. However, there is currently no treatment for preventing ER stress-mediated cell death. Here, we show that mesencephalic astrocyte-derived neurotrophic factor (MANF), a neurotrophic factor secreted from ER stressed cells, prevents ER stress-mediated β cell death and enhances β cell proliferation in cell and mouse models of Wolfram syndrome, a prototype of ER disorders. Our results indicate that molecular pathways regulated by MANF are promising therapeutic targets for regenerative therapy of ER stress-related disorders, including diabetes, retinal degeneration, neurodegeneration, and Wolfram syndrome.

10.1038/s41374-020-0436-1

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Citations (13)