Cargando…

De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes

We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including TRIP12 and NPPC. TRIP12 haploinsufficiency causes developmental delay with isolated dysmorphic faci...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kondo, Yuto, Aoyama, Kohei, Suzuki, Hisato, Hattori, Ayako, Hori, Ikumi, Ito, Koichi, Yoshida, Aya, Koroki, Mari, Ueda, Kentaro, Kosaki, Kenjiro, Saitoh, Shinji
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261772/ https://www.ncbi.nlm.nih.gov/pubmed/32528716 http://dx.doi.org/10.1038/s41439-020-0107-1

Ejemplares similares

Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations
por: Tassano, Elisa, et al.
Publicado: (2013)

X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female
por: Vidmar, Alaina P., et al.
Publicado: (2017)

Microduplication of 7q36.3 encompassing the SHH long-range regulator (ZRS) in a patient with triphalangeal thumb-polysyndactyly syndrome and congenital heart disease
por: Liu, Zhenghua, et al.
Publicado: (2017)

Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report
por: Ruiz-Botero, Felipe, et al.
Publicado: (2016)

Definition and refinement of the 7q36.3 duplication region associated with schizophrenia
por: Aleksic, Branko, et al.
Publicado: (2013)

Truncating mutation in NFIA causes brain malformation and urinary tract defects
por: Negishi, Yutaka, et al.
Publicado: (2015)

Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality
por: Sheth, Frenny J, et al.
Publicado: (2014)

A single nucleotide mutation in Nppc is associated with a long bone abnormality in lbab mice
por: Jiao, Yan, et al.
Publicado: (2007)

The Mature COC Promotes the Ampullary NPPC Required for Sperm Release from Porcine Oviduct Cells
por: Wu, Zhanying, et al.
Publicado: (2023)

Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription
por: Di Stolfo, Giuseppe, et al.
Publicado: (2019)

X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3
por: BAI, JINLI, et al.
Publicado: (2016)

Unexplained Pancytopenia in a Patient with 5q35.2-q35.3 Microduplication Encompassing NSD1: A Case Report
por: Park, Sungwoo, et al.
Publicado: (2018)

Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3
por: Choi, Asayeon, et al.
Publicado: (2017)

Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion
por: Fan, Liang-Liang, et al.
Publicado: (2021)

2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy
por: Li, Jingmei, et al.
Publicado: (2014)

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1
por: Zhou, Yaqing, et al.
Publicado: (2022)

Chromosomal amplifications, 3q gain and deletions of 2q33-q37 are the frequent genetic changes in cervical carcinoma
por: Rao, Pulivarthi H, et al.
Publicado: (2004)

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly
por: Negishi, Yutaka, et al.
Publicado: (2017)

Insulin Infusion Is Linked to Increased NPPC Expression in Muscle and Plasma C-type Natriuretic Peptide in Male Dogs
por: Gregory, Justin M, et al.
Publicado: (2021)

Genome‐wide association study identifies 7q11.22 and 7q36.3 associated with noise‐induced hearing loss among Chinese population
por: Niu, Yuguang, et al.
Publicado: (2020)

Importance of Translabial Ultrasound for the Diagnosis of Pelvic Organ Prolapse and Its Correlation with the POP-Q Examination: Analysis of 363 Cases
por: Nam, Gina, et al.
Publicado: (2021)

De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences
por: Hiraide, Takuya, et al.
Publicado: (2019)

Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the HNF1B gene
por: Cleper, Roxana, et al.
Publicado: (2021)

Common variants at 2q37.3, 8q24.21, 15q21.3, and 16q24.1 influence chronic lymphocytic leukemia risk
por: Crowther-Swanepoel, Dalemari, et al.
Publicado: (2010)

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report
por: Traylor, Ryan N, et al.
Publicado: (2009)

Hemophilia B in a female with intellectual disability caused by a deletion of Xq26.3q28 encompassing the F9
por: Stoof, Sara C. M., et al.
Publicado: (2018)

Prenatal detection of pure proximal 6q14.1 microduplication encompassing LCA5 gene: A variant of likely benign
por: Yue, Fagui, et al.
Publicado: (2022)

Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene
por: Luo, Man, et al.
Publicado: (2022)

Partial trisomy 2q(2q37.3-->qter) and monosomy 7q(7q34--->qter) due to paternal reciprocal translocation 2;7: a case report.
por: Ahn, Jun Mo, et al.
Publicado: (2003)

Small molecule Z363 co‐regulates TAF10 and MYC via the E3 ligase TRIP12 to suppress tumour growth
por: Xiong, Yan, et al.
Publicado: (2023)

Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome
por: Ma, Ruiyu, et al.
Publicado: (2015)

37.1 Barriers and Innovations Before and During COVID-19: Findings From School/County Collaborative Programs Throughout California
por: Ijadi-Maghsoodi, Roya, et al.
Publicado: (2021)

The italian consensus for the classification and reporting of thyroid cytology: Cytohistologic and molecular correlations on 37,371 nodules from a single institution
por: Torregrossa, Liborio, et al.
Publicado: (2022)

Investigation of the association between obesity and insulin-induced gene 1 polymorphism at 7q36.3 region in Uygur population in Xinjiang, China
por: Tao, Jing, et al.
Publicado: (2019)

From FISH to Hi-C: The Chromatin Architecture of the Chromosomal Region 7q36.3, Frequently Rearranged in Leukemic Cells, Is Evolutionary Conserved
por: Gulino, Gesualda M., et al.
Publicado: (2021)

Primary Chest Wall MYC/BCL6 Double-hit Lymphoma with t(3;7)(q27;p12) and t(8;14)(q24;q32) Translocations
por: Kamachi, Kazuharu, et al.
Publicado: (2019)

2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis
por: Cho, Eun-Kyung, et al.
Publicado: (2017)

A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome
por: Ieda, Daisuke, et al.
Publicado: (2019)

Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders
por: Yamada, Mamiko, et al.
Publicado: (2019)

Establishment of an Undifferentiated Leukemia Cell Line (Kasumi‐3) with t(3;7)(q27;q22) and Activation of the EVI1 Gene
por: Asou, Hiroya, et al.
Publicado: (1996)

Cannot write session to /tmp/vufind_sessions/sess_npkpft8blrg97qql28a17avdib