Cargando…

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

BACKGROUND: The premature fusion of metopic sutures results in the clinical phenotype of trigonocephaly. An association of this characteristic with the monosomy 9p syndrome is well established and the receptor-type protein tyrosine phosphatase gene (PTPRD), located in the 9p24.1p23 region and encodi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Choucair, Nancy, Mignon-Ravix, Cecile, Cacciagli, Pierre, Abou Ghoch, Joelle, Fawaz, Ali, Mégarbané, André, Villard, Laurent, Chouery, Eliane
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469107/ https://www.ncbi.nlm.nih.gov/pubmed/26082802 http://dx.doi.org/10.1186/s13039-015-0149-0

Ejemplares similares

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients
por: Choucair, Nancy, et al.
Publicado: (2015)

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene
por: Chebly, Alain, et al.
Publicado: (2018)

A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity
por: Jdila, Marwa Ben, et al.
Publicado: (2021)

Trigonocephaly: A simple modified technique
por: Mohammad, Danish, et al.
Publicado: (2014)

Intracranial Volume Not Correlated With Severity in Trigonocephaly
por: Kronig, Otto D. M., et al.
Publicado: (2021)

A rare case of a familial form of nonsyndromic trigonocephaly
por: Saghir, Salahiddine, et al.
Publicado: (2015)

Trigonocephaly: Case Report, Review of Literature and a Technical Note
por: Sumkovski, Robert, et al.
Publicado: (2019)

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
por: Suzuki, Toshimitsu, et al.
Publicado: (2020)

Genetic variants in PTPRD and risk of gestational diabetes mellitus
por: Chen, Ting, et al.
Publicado: (2016)

PTPRD and CNTNAP2 as markers of tumor aggressiveness in oligodendrogliomas
por: Rautajoki, Kirsi J., et al.
Publicado: (2022)

Shimoji’s Cranioplasty Yielding Life-quality Improvements in MIld Trigonocephaly (SCYLIMIT)
por: Takeyoshi, Shimoji
Publicado: (2018)

Deletion of Ptprd and Cdkn2a cooperate to accelerate tumorigenesis
por: Ortiz, Berenice, et al.
Publicado: (2014)

Germline PTPRD Mutations in Ewing Sarcoma: Biologic and Clinical Implications
por: Jiang, Yunyun, et al.
Publicado: (2013)

Reduced Expression of PTPRD Correlates with Poor Prognosis in Gastric Adenocarcinoma
por: Wang, Dandan, et al.
Publicado: (2014)

PW01-023 – Ex vivo PBMC cytokine profile in FMF patients
por: Ibrahim, JN, et al.
Publicado: (2013)

Craniometric Measurements and Surgical Outcomes in Trigonocephaly Patients Who Underwent Surgical Treatment
por: Baş, Nuri Serdar, et al.
Publicado: (2021)

KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability
por: Malvezzi, João VM, et al.
Publicado: (2018)

Trigonocephaly and Cranium Bifidum Occultum Treated Simultaneously Using the Split-Bone Technique and Piezosurgery
por: Ferreira Furtado, Leopoldo Mandic, et al.
Publicado: (2021)

Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment
por: Ceroni, Fabiola, et al.
Publicado: (2014)

Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report
por: Travan, Laura, et al.
Publicado: (2011)

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly
por: Mohamed, Amal M., et al.
Publicado: (2021)

Metopic triangle osteotomy in trigonocephaly Piezosurgery: a technical variant to control metopic emissary veins
por: Licci, Maria, et al.
Publicado: (2021)

Susceptibility to neurofibrillary tangles: role of the PTPRD locus and limited pleiotropy with other neuropathologies
por: Chibnik, Lori B, et al.
Publicado: (2017)

DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk
por: Śnit, Mirosław, et al.
Publicado: (2021)

1Novel MEFV transcripts in Familial Mediterranean fever patients and controls
por: Medlej-Hashim, Myrna, et al.
Publicado: (2010)

PCDH19 in Males: Are Hemizygous Variants Linked to Autism?
por: Chouery, Eliane, et al.
Publicado: (2023)

A Homozygous 1.16 Megabases Microdeletion at 8p22 Including The Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delay
por: Gumus, Evren
Publicado: (2020)

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population
por: Jalkh, Nadine, et al.
Publicado: (2019)

CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature
por: Abi Raad, Sarah, et al.
Publicado: (2023)

"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes
por: Rafati, Maryam, et al.
Publicado: (2012)

TCF12 microdeletion in a 72‐year‐old woman with intellectual disability
por: Piard, Juliette, et al.
Publicado: (2015)

Abstract: Trigonocephaly: Are We Able to Establish Objective Clinical Parameters Without the Need for CT-Based Analysis?
por: McGrath, Jennifer L., et al.
Publicado: (2016)

Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1
por: Picker-Minh, Sylvie, et al.
Publicado: (2014)

PTPRD silencing by DNA hypermethylation decreases insulin receptor signaling and leads to type 2 diabetes
por: Chen, Yng-Tay, et al.
Publicado: (2015)

PTPRT and PTPRD Deleterious Mutations and Deletion Predict Bevacizumab Resistance in Metastatic Colorectal Cancer Patients
por: Hsu, Hung-Chih, et al.
Publicado: (2018)

PTPRD-inactivation-induced CXCL8 promotes angiogenesis and metastasis in gastric cancer and is inhibited by metformin
por: Bae, Won Jung, et al.
Publicado: (2019)

Homozygous deletion of Tenascin-R in a patient with intellectual disability
por: Dufresne, David, et al.
Publicado: (2012)

Pseudo-Guillain–Barré syndrome masking acute myeloid leukemia relapse: Brief report and review
por: El Karak, Fadi, et al.
Publicado: (2015)

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome
por: Muhle, Hiltrud, et al.
Publicado: (2011)

An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms
por: Iourov, Ivan Y., et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_71ilee22psr08m2jv5sqni9h9i