Hirotomo Saitsu

Hirotomo Saitsu

From The Departments Of Human Genetics (S.m., M.n., Y.t., N. Miyake, N. Matsumoto, H.s.) And Biochemistry (M. Shiina, K.o.), Yokohama City University Graduate School Of ...

Direct Impact

Concepts for which Hirotomo Saitsu has direct influence:

intellectual disability
developmental delay
west syndrome
epileptic encephalopathy
novo mutations
cerebellar atrophy
sonic hedgehog

External impact

Concepts related to the work of other authors for which Hirotomo Saitsu has influence:

gli3 mutations
neurological phenotypes
brain iron accumulation
neurodegenerative disorders
spastic paraplegia
epileptic encephalopathy
cranial sclerosis

Prominent publications by Hirotomo Saitsu

KOL-Index: 204 BACKGROUND: Rett syndrome (RTT) is a characteristic neurological disease presenting with regressive loss of neurodevelopmental milestones. Typical RTT is generally caused by abnormality of methyl-CpG binding protein 2 (MECP2). Our objective to investigate the genetic landscape of MECP2-negative typical/atypical RTT and RTT-like phenotypes using whole exome sequencing (WES). METHODS: We ...
Known for
Wes Mecp2 | Methyl-Cpg Binding Protein | 28 Genes | Pathogenic Pathogenic Single-Nucleotide
KOL-Index: 142 Biallelic 4-hydroxyphenylpyruvate dioxygenase-like protein (HPDL) variants were recently reported as a cause of progressive and incurable neurodegenerative diseases ranging from neonatal-onset leukoencephalopathy with severe neurodevelopmental delay to spastic paraplegia. Although the physiological function of HPDL remains unknown, its subcellular localization in the mitochondria has been ...
Known for
Biallelic | Ketogenic | Reported Hpdl
KOL-Index: 95 Although there are many known Mendelian genes linked to epileptic or developmental and epileptic encephalopathy (EE/DEE), its genetic architecture is not fully explained. Here, we address this incompleteness by analyzing exomes of 743 EE/DEE cases and 2366 controls. We observe that damaging ultra-rare variants (dURVs) unique to an individual are significantly overrepresented in EE/DEE, both ...
Known for
Epileptic | Damaging Novo Mutations | Gene Durvs | Neurofibromatosis
KOL-Index: 84 Mesomelic dysplasia (MD) encompasses a heterogeneous group of disorders characterized by shortening of the middle segments of the limbs. Previous studies have revealed the development of Nievergelt type-like MD accompanied by postaxial toe reduction in a patient with a ~500 kb microdeletion at 2q11.2 involving AFF3 alone, and the occurrence of Nievergelt type-like MD in mice with a ~353 kb ...
Known for
Strong Expression | “aff3-Related Md | 500 Kb Microdeletion | 353 Kb Deletion
KOL-Index: 75 De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with hypomyelination and pontocerebellar atrophy. We aimed at comprehensively delineating the phenotypic spectrum associated with SPTAN1 mutations. Using different molecular genetic techniques, we identified 20 patients with a pathogenic or ...
Known for
Spectrin Severe | Cerebellar Atrophy | Αii
KOL-Index: 74 Background: Chromosomal deletion involving the 6p25 region results in a clinically recognizable syndrome characterized by anterior eye chamber anomalies with risk of glaucoma and non-ocular malformations (6p25 deletion syndrome). We report a newborn infant case of childhood glaucoma with a combination of partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced ...
Known for
6p25 Trisomy | Non-Ocular Malformations | Deletion Syndrome | Non-Acquired Congenital Ocular Anomalies
KOL-Index: 71 BACKGROUND: No population-based surveys of porencephaly, schizencephaly, and hydranencephaly have been conducted in Japan or other Asian countries. We performed a neuroepidemiologic analysis to elucidate the incidence of porencephaly, schizencephaly, and hydranencephaly in Miyagi prefecture, Japan, during 2007-2011. METHODS: We sent inquiry forms in February 2012 to three neonatal intensive ...
Known for
Surgery Miyagi | Rate Orthopedic | Magnetic Resonance Imaging Scans | Population-Based Surveys
KOL-Index: 69 OBJECTIVE: Hypothalamic hamartoma (HH) is a congenital anomalous brain tumor. Although most HHs are found without any other systemic features, HH is observed in syndromic disorders such as Pallister-Hall syndrome (PHS) and oral-facial-digital syndrome (OFD). Here, we explore the possible involvement of somatic mutations in HH. METHODS: We analyzed paired blood and hamartoma samples from 18 ...
Known for
Shh | Oral-Facial-Digital Syndrome | Congenital Anomalous Brain Tumor | Reporters
KOL-Index: 69 Heterozygous in-frame mutations (p.E2207del and p.R2308_M2309dup) in the α-II subunit of spectrin (SPTAN1) were recently identified in two patients with intellectual disability (ID), infantile spasms (IS), hypomyelination, and brain atrophy. These mutations affected the C-terminal domain of the protein, which contains the nucleation site of the α/β spectrin heterodimer. By screening SPTAN1 ...
Known for
Atrophy Mutations | Frame Novo | Terminal Sptan1 | Non-Syndromic
KOL-Index: 69 Potocki–Shaffer syndrome (PSS) is a contiguous gene syndrome caused by 11p11.2 deletions. PSS is clinically characterized by intellectual disability, craniofacial anomalies, enlarged parietal foramina, and multiple exostoses. PSS occasionally shows autism spectrum disorder, epilepsy, and overgrowth. Some of the clinical features are thought to be associated with haploinsufficiency of two ...
Known for
Overgrowth Features | Anomalies Autism | Genetic Alterations | Contiguous Gene Syndrome

From the Departments of Human Genetics (S.M., M.N., Y.T., N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Chi

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