Browse
Submit Data
Databases
API
Help

Dataset Information

19 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Genitopatellar syndrome: the first reported case in Japan.

ABSTRACT: Genitopatellar syndrome (GPS) is mainly characterized by an absence of patellae, congenital flexion contractures of the lower limbs, psychomotor retardation, and anomalies of the external genitalia and kidneys. We report an 18-year-old female with a novel heterozygous truncating mutation in exon 17 of the KAT6B gene [MC_000010.11:c.3603_3606 del, p.Arg1201fs]. This is the first report of typical GPS in a Japanese individual. The details of our findings may contribute to elucidating the mechanism underlying GPS-specific clinical features.

SUBMITTER: Okano S

PROVIDER: S-EPMC5972145 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Genitopatellar syndrome: the first reported case in Japan.

Okano Satomi S Miyamoto Akie A Fukuda Ikue I Tanaka Hajime H Hata Kenichiro K Kaname Tadashi T Matsubara Yoichi Y Makita Yoshio Y

Human genome variation 20180528

Genitopatellar syndrome (GPS) is mainly characterized by an absence of patellae, congenital flexion contractures of the lower limbs, psychomotor retardation, and anomalies of the external genitalia and kidneys. We report an 18-year-old female with a novel heterozygous truncating mutation in exon 17 of the KAT6B gene [MC_000010.11:c.3603_3606 del, p.Arg1201fs]. This is the first report of typical GPS in a Japanese individual. The details of our findings may contribute to elucidating the me ...[more]

PMID: 29899993

Similar Datasets

Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea.

Project description:Genitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs, psychomotor retardation and genital and renal anomalies. We report the case of a female infant diagnosed with GPS to a KAT6B gene mutation, which was identified using whole exome sequencing.

| S-EPMC6433568 | biostudies-literature

Pseudo-Meigs' Syndrome in Tunisian H Syndrome Female Patient: First Case Reported.

Project description:H syndrome is an extremely rare autosomal recessive affection caused by biallelic mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter hENT3. The hallmark signs are cutaneous consisting of hyperpigmentation and hypertrichosis patches. Besides, associated systemic manifestations are highly various reflecting phenotypic pleiotropism. Herein, we report a first case of pseudo-Meigs' syndrome occurring in a young Tunisian H syndrome diagnosed patient with a novel homozygous frameshift mutation in exon 2 of the SLC29A3 gene: p.S15Pfs*86 inducing a premature stop codon. The patient developed ascites associated with left ovarian mass and she underwent surgery. After tumor resection, ascites disappeared rapidly. Histological examination showed serous cystadenoma of the ovary orienting the diagnosis towards pseudo-Meigs' syndrome.

| S-EPMC8055247 | biostudies-literature

First reported adult patient with TARP syndrome: A case report.

Project description:TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, and persistence of the left superior vena cava) is a rare X-linked syndrome often resulting in pre- or post-natal lethality in affected males. In 2010, RBM10 was identified as the disease-causing gene, and we describe the first adult patient with TARP syndrome at age 28 years, hereby expanding the phenotypic spectrum. Our patient had Robin sequence, atrial septal defect, intellectual disability, scoliosis, and other findings previously associated with TARP syndrome. In addition, he had a prominent nose and nasal bridge, esotropia, displacement of lacrimal points in the cranial direction, small teeth, and chin dimple, which are the findings that have not previously been associated with TARP syndrome. Our patient was found to carry a hemizygous c.273_283delinsA RBM10 mutation in exon 4, an exon skipped in three of five protein-coding transcripts, suggesting a possible explanation for our patient surviving to adulthood. Direct sequencing of maternal DNA indicated possible mosaicism, which was confirmed by massive parallel sequencing. One of two sisters were heterozygous for the mutation. Therefore, we recommend sisters of patients with TARP syndrome be carrier tested before family planning regardless of carrier testing results of the mother. Based on our patient and previously reported patients, we suggest TARP syndrome be considered as a possible diagnosis in males with severe or profound intellectual disability combined with septal heart defect, and Robin sequence, micrognathia, or cleft palate.

| S-EPMC6587983 | biostudies-literature

Gomez-Lopez-Hernandez syndrome: First reported case from the Indian subcontinent.

Project description:Gomez-Lopez-Hernández syndrome (GLHS) is a rare neurocutaneous syndrome characterized by a triad of findings: partial alopecia of the scalp, trigeminal anaesthesia, and rhombencephalosynapsis. GLHS is also known as cerebello-trigeminal-dermal dysplasia. Besides this triad, a number of varying traits have been described in 35 previously reported cases. Reported here is a case of a four-year-old boy, born out of consanguineous marriage, presenting with the classic triad of findings, i.e. partial alopecia of the scalp, trigeminal anaesthesia, and rhombencephalosynapsis. To the extent known, this is the first case of GLHS reported from India. If a child presents with alopecia and rhom-bencephalosynapsis, GLHS should be considered in the differential diagnosis. A host of studies can be used to determine the exact pathogenesis, and confirming the diagnosis of GLHS is an important step in prenatal testing for at-risk pregnancies.

| S-EPMC5359355 | biostudies-literature

Post-COVID-19 vaccine Guillain-Barre syndrome; first reported case from Qatar.

Project description:IntroductionGuillain-Barré syndrome (GBS) is an immune-mediated peripheral neuropathy that was reported following meningococcus, polio, influenza and rabies vaccines. However, an association with the COVID-19 vaccine is yet to be established.Presentation of caseWe present the case of an elderly gentleman with no history of SARS-CoV-2 infection or any recent viral or bacterial illnesses who presented with GBS 20 days after the second dose of COVID-19 vaccination. The diagnosis was established based on physical examination, magnetic resonance imaging (MRI) of the spine, cerebrospinal fluid (CSF) analysis and electromyography (EMG).DiscussionDue to the occurrence of GBS after certain types of infections, molecular mimicry has become widely acceptable as the underlying pathophysiology. The reported cases of GBS following vaccination further supported this theory, however proving a causal relationship between vaccines and GBS on the molecular level remains a challenge.ConclusionsTo the best of our knowledge this is the first reported case in the state of Qatar. It is important to mention that more research is needed to establish an association between COVID-19 vaccine and GBS. In our opinion, the benefits of COIVID-19 vaccine largely outweigh its risks.

| S-EPMC8253659 | biostudies-literature

Case Report: The First Reported Case of Bullous Lichen Planus-Systemic Lupus Erythematosus Overlap Syndrome.

Project description:Introduction: Lichen planus/lupus erythematosus overlap syndrome is rarely seen in the clinic and has the characteristic clinical manifestations, histopathology, and immunopathology of lichen planus (LP) and lupus erythematosus (LE). This is the first reported case of bullous lichen planus (BLP)/systemic lupus erythematosus (SLE) overlap syndrome with hair loss as the first symptom. Case Presentation: A 48-year-old female presented with alopecia for half a year, and skin lesions accompanied by itching on her face, trunk, and limbs for 3 months. She had a history suggestive of photosensitivity. Laboratory tests and histopathology were performed for diagnosis. Histopathologic features of the upper arm and back of the hand were consistent with BLP, whereas the scalp lesion indicated LE. Laboratory examination indicated positive for antinuclear antibody (ANA) (1:160), leukopenia, increased urinary protein, decreased C3/C4, and normal BP180. The patient was given glucocorticoid combined with acitretin and immunosuppressive therapy after a definite diagnosis of BLP/SLE overlap syndrome. The lesions of the patient disappeared and some hair had regrown during the two years of follow-up. Conclusion: This is the first reported case of BLP/SLE overlap syndrome which responded well to glucocorticoids, retinoids, and immunosuppressive drugs. Multiple biopsies from characteristic lesions will guide doctors to avoid misdiagnoses and delayed treatment.

| S-EPMC8599928 | biostudies-literature

Limbic Encephalitis Associated with Human Herpesvirus-7 (HHV-7) in an Immunocompetent Adult: The First Reported Case in Japan.

Project description:A 35-year-old male who had not previously suffered any major illnesses was admitted to our hospital because of general fatigue, fever, headache, vomiting, consciousness disturbance, and seizures. A neurological examination showed that he was in a semi-comatose state and exhibited neck stiffness. Brain magnetic resonance imaging detected high-intensity areas in the bilateral hippocampi and periventricular white matter. A cerebrospinal fluid examination revealed mononuclear pleocytosis, an elevated protein level, and positivity for human herpesvirus-7 (HHV-7) DNA. The patient's condition improved after the administration of methylprednisolone, intravenous immunoglobulins, and acyclovir. This is the first known case of limbic encephalitis associated with HHV-7 in an immunocompetent Japanese adult.

| S-EPMC5548691 | biostudies-other

The first post-cardiac injury syndrome reported following transcatheter aortic valve implantation: a case report.

Project description:BackgroundPost-cardiac injury syndrome is a form of secondary pericarditis with or without pericardial effusion, which typically occurs weeks to months following an injury to the heart or pericardium. Disease activity can be followed with serial testing of inflammatory markers e.g. C-reactive protein (CRP) and/or sedimentation rate, electrocardiogram, and echocardiography.Case summaryA 79-year-old woman was admitted with chest pain, dyspnoea at rest, cough, and low degree fever. The patient had undergone transcatheter aortic valve implantation (TAVI) 6 months before admission. Inflammatory markers were increased and a chest X-ray and computed tomography (CT) showed a minimal left pleural effusion. An empirical antibiotic treatment and ibuprofen to control chest pain were started on the presumption of an acute bronchitis. Despite 15 days of different antibiotic protocols the markers of inflammation remained increased. A positron emission tomography with computed tomography and cardiac magnetic resonance imaging showed signs of an aseptic pericarditis. After having excluded any infectious, metabolic, drug-induced or neoplastic genesis we considered the diagnosis of late onset autoimmune-mediated pericarditis. Subsequently, treatment was promptly initiated with colchicine and prednisone. The patient reported clinical improvement in the following days and the CRP value continuously decreased.DiscussionTo the best of our knowledge, this is the first reported case of post-cardiac injury syndrome after TAVI. It should be considered in those patients who have persistent chest pain, fever, fatigue, and elevated inflammatory markers after a TAVI procedure, even though it may occur weeks or months after the intervention. A triple therapy with colchicine, ibuprofen, and low-dosage steroids may be used for persistent symptoms.

| S-EPMC6426006 | biostudies-literature

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

Project description:Genitopatellar syndrome (GPS) is a skeletal dysplasia with cerebral and genital anomalies for which the molecular basis has not yet been determined. By exome sequencing, we found de novo heterozygous truncating mutations in KAT6B (lysine acetyltransferase 6B, formerly known as MYST4 and MORF) in three subjects; then by Sanger sequencing of KAT6B, we found similar mutations in three additional subjects. The mutant transcripts do not undergo nonsense-mediated decay in cells from subjects with GPS. In addition, human pathological analyses and mouse expression studies point to systemic roles of KAT6B in controlling organismal growth and development. Myst4 (the mouse orthologous gene) is expressed in mouse tissues corresponding to those affected by GPS. Phenotypic differences and similarities between GPS, the Say-Barber-Biesecker variant of Ohdo syndrome (caused by different mutations of KAT6B), and Rubinstein-Taybi syndrome (caused by mutations in other histone acetyltransferases) are discussed. Together, the data support an epigenetic dysregulation of the limb, brain, and genital developmental programs.

| S-EPMC3276659 | biostudies-literature

First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray.

Project description:Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked syndrome. Female carriers may have mild manifestations. Macrosomia, polyhydramnios, and kidney and urinary tract anomalies are common findings in male fetuses. We present the first case of a severely affected female fetus with stigmata of SGBS and a deletion involving the GPC3 gene.

| S-EPMC5412752 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data