Publications by authors named "Rie Seyama"

CEP55 encodes centrosomal protein 55 kDa, which plays a crucial role in mitosis, particularly cytokinesis. Biallelic CEP55 variants cause MARCH syndrome (multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly). Here, we describe a Japanese family with two affected siblings harboring novel compound heterozygous CEP55 variants, NM_001127182: c.

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  • ASXL3-related disorder is a genetic condition that leads to developmental delays and limited speech, first identified in 2013, and follows an autosomal dominant inheritance pattern.
  • A 14-year-old girl with the disorder presented with emotional instability and a significant decrease in food intake, resulting in weight loss, with no signs of bulimia or food allergies.
  • This case marks the first adolescent instance of feeding difficulties linked to ASXL3-related disorder, suggesting avoidant/restrictive food intake disorder (ARFID) as a possible contributing factor.
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  • - The study explores pre-mRNA splicing, its critical role in neurodevelopment, and how mutations in spliceosome-related genes U2AF2 and PRPF19 contribute to neurodevelopmental disorders (NDDs).
  • - Researchers found multiple pathogenic variants in U2AF2 and PRPF19 across unrelated individuals, with functional analysis showing that specific U2AF2 variants disrupted normal splicing and neuritogenesis in human neurons.
  • - Additionally, investigations in Drosophila models revealed that the loss of function in U2AF2 and PRPF19 caused severe developmental defects and social issues, pointing to a genetic network wherein splicing factors like Rbfox1 play a significant role in brain development and function. *
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  • A 27-year-old Japanese woman presented with progressive sensorineural deafness and neuropathy, beginning in her teens with weakness in her legs and hearing loss.
  • Audiological and imaging tests revealed signs of auditory neuropathy spectrum disorder (ANSD) at age 22.
  • Genetic analysis showed a variant in the ATP1A1 gene, indicating that ANSD could be a crucial factor in the hearing impairment associated with ATP1A1-related disorders.
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  • A rare de novo variant (p.Tyr40His) was found in a male patient with severe congenital anomalies, leading to a fatal respiratory condition shortly after birth.
  • The study showed that this specific variant weakly interacts with the protein PAK1, hindering its activation and potentially disrupting important signaling pathways that could explain the patient's clinical issues.
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We discovered biallelic intragenic structural variations (SVs) in by applying long-read whole genome sequencing to an exome-negative patient with developmental and epileptic encephalopathy (DEE). We also found another DEE patient carrying a biallelic (homozygous) single-nucleotide variant (SNV) in that was detected by exome sequencing. heterozygous recurrent missense variants with gain-of-function or heterozygous entire duplication of are known causes of epilepsy, but biallelic SNVs/SVs have never been described.

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Intrauterine balloon prolapse sometimes occurs, and the intrauterine balloon must be reinserted. Furthermore, intrauterine balloon tamponade (IBT) failure can necessitate additional invasive procedures. We report a case of cervical cerclage with IBT for placenta previa with a cervical dilation.

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The SUZ12 gene encodes a subunit of polycomb repressive complex 2 (PRC2) that is essential for development by silencing the expression of multiple genes. Germline heterozygous variants in SUZ12 have been found in Imagawa-Matsumoto syndrome (IMMAS) characterized by overgrowth and multiple dysmorphic features. Similarly, both EZH2 and EED also encode a subunit of PRC2 each and their pathogenic variants cause Weaver syndrome and Cohen-Gibson syndrome, respectively.

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TNNI2 at 11p15.5 encodes troponin I2, fast skeletal type, which is a member of the troponin I gene family and a component of the troponin complex. Distal arthrogryposis (DA) is characterized by congenital limb contractures without primary neurological or muscular effects.

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We report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly, brachycephaly, prominent forehead, hypertelorism, prominent eyes, thin upper lip, and progenia.

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Recent studies suggest that transcript isoforms significantly overlap (approximately 60%) between brain tissue and Epstein-Barr virus-transformed lymphoblastoid cell lines (LCLs). Interestingly, 14 cohesion-related genes with variants that cause Cornelia de Lange Syndrome (CdLS) are highly expressed in the brain and LCLs. In this context, we first performed RNA sequencing of LCLs from 22 solved (with pathogenic variants) and 19 unsolved (with no confirmed variants) CdLS cases.

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Objective: This study aimed to clarify the effectiveness of cervical cerclage in preventing recurrent preterm births.

Materials And Methods: A retrospective study was conducted using the perinatal registration database of the Japan Society of Obstetrics and Gynecology for the Perinatal Center from 2014 to 2016. The efficacies of history-indicated, ultrasound-indicated, and physical examination-indicated cerclage as preventive treatments for women with a history of preterm birth were evaluated by comparing cerclage and non-cerclage cases.

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TET3 at 2p13.1 encodes tet methylcytosine dioxygenase 3, a demethylation enzyme that converts 5-methylcytosine to 5-hydroxymethylcytosine. Beck et al.

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The objective of this study was to evaluate the efficacy of whole exome sequencing (WES) for the genetic diagnosis of cases presenting with fetal structural anomalies detected by ultrasonography. WES was performed on 19 cases with prenatal structural anomalies. Genomic DNA was extracted from umbilical cords or umbilical blood obtained shortly after birth.

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Previously we reported laparoscopic removal of compression sutures due to uterine ischemia and related pain, which has two of the difficult aspects: (1) maneuvering the curved needle to perform compression suturing in the narrow surgical field, and (2) distinguishing between the threads of the cesarean section wound sutures versus the vertical compression sutures during removal, as the threads are the same white color. We performed vertical compression sutures for intrapartum hemorrhage with total placental previa, and modified both the needle type and the color of the thread used for uterine compression sutures during cesarean section. After the operation, we performed successful laparoscopic removal of compression sutures for postoperative focal pain.

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Background: A history of preterm birth is a risk factor for preterm birth in a future pregnancy, and there are some reports of prevention methods, such as the administration of progesterone. However, the rate of recurrence of preterm birth in Japan has not been clarified, and there is no data for judging whether these preventive methods are effective.

Objective: To clarify the risk of recurrence of preterm birth and preterm prelabor rupture of membranes (pPROM) in Japan.

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