Cargando…

A Novel Homozygous Frameshift Mutation in Exon 2 of LEP Gene Associated with Severe Obesity: A Case Report

BACKGROUND: Monogenic obesity is a rare type of obesity caused by a mutation in a single gene. Patients with monogenic obesity may develop early onset of obesity and severe metabolic abnormalities. CASE PRESENTATION: A two-and-half-year-old girl was presented to our clinic because of excessive weigh...

Descripción completa

Detalles Bibliográficos
Autores principales:	Altawil, Ashwaq Shukri, Mawlawi, Horia Ahmad, Alghamdi, Khalid Ateeq, Almijmaj, Faten Fohaid
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Libertas Academica 2016
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5153319/ https://www.ncbi.nlm.nih.gov/pubmed/27980447 http://dx.doi.org/10.4137/CMPed.S40432

Ejemplares similares

A Novel Mutation of the CYP11B2 in a Saudi Infant with Primary Hypoaldosteronism
por: Alfaraidi, Lama, et al.
Publicado: (2017)

A novel homozygous frameshift mutation in MNS1 associated with severe oligoasthenoteratozoospermia in humans
por: Li, Yong, et al.
Publicado: (2020)

Calreticulin gene exon 9 frameshift mutations in patients with thrombocytosis
por: Chi, J, et al.
Publicado: (2014)

A homozygous frameshift mutation in the murine filaggrin gene facilitates enhanced percutaneous allergen priming
por: Fallon, Padraic G., et al.
Publicado: (2009)

A homozygous FANCM frameshift pathogenic variant causes male infertility
por: Yin, Hao, et al.
Publicado: (2018)

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy
por: Okubo, Mariko, et al.
Publicado: (2020)

Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation
por: Altawil, Lama, et al.
Publicado: (2021)

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
por: Lahrouchi, Najim, et al.
Publicado: (2019)

Correction: A homozygous FANCM frameshift pathogenic variant causes male infertility
por: Yin, Hao, et al.
Publicado: (2018)

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family
por: Waseem, Syeda Seema, et al.
Publicado: (2021)

A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients
por: Gaboon, Nagwa E. A., et al.
Publicado: (2020)

Exploring the Potential of Symmetric Exon Deletion to Treat Non-Ischemic Dilated Cardiomyopathy by Removing Frameshift Mutations in TTN
por: Rodriguez-Polo, Ignacio, et al.
Publicado: (2022)

Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency
por: Chan, Li F, et al.
Publicado: (2009)

A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family
por: Gaboon, Nagwa E. A., et al.
Publicado: (2019)

A homozygous KASH5 frameshift mutation causes diminished ovarian reserve, recurrent miscarriage, and non-obstructive azoospermia in humans
por: Hou, Xiaoning, et al.
Publicado: (2023)

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene
por: Moltrasio, Chiara, et al.
Publicado: (2023)

Frameshift indels introduced by genome editing can lead to in-frame exon skipping
por: Lalonde, Simon, et al.
Publicado: (2017)

Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features
por: Mroczek, Magdalena, et al.
Publicado: (2020)

An Exon-Based Comparative Variant Analysis Pipeline to Study the Scale and Role of Frameshift and Nonsense Mutation in the Human-Chimpanzee Divergence
por: Yu, GongXin
Publicado: (2009)

Case Report: A Frameshift Mutation in MSH2 Exon 2 in a Kidney Recipient With Muir–Torre Syndrome
por: Feng, Yifei, et al.
Publicado: (2021)

Frameshift mutation in exon 17 of PTCH1 gene in Nevoid basal cell carcinoma syndrome: A case report
por: Aravind, Thara, et al.
Publicado: (2023)

Genetic subgroup of small ruminant lentiviruses that infects sheep homozygous for TMEM154 frameshift deletion mutation A4(Δ)53
por: Clawson, Michael L, et al.
Publicado: (2015)

Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome
por: Wang, Zhao-Xia, et al.
Publicado: (2021)

Exon 11 homozygous mutations and intron 10/exon 11 junction deletions in the KIT gene are associated with poor prognosis of patients with gastrointestinal stromal tumors
por: Shen, Yan‐Ying, et al.
Publicado: (2020)

A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex
por: Tryon, Rebecca K., et al.
Publicado: (2019)

Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa
por: LIU, SANMEI, et al.
Publicado: (2016)

Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive
por: Bhargav, Desaraju Suresh, et al.
Publicado: (2017)

Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the CYP7B1 Gene in a Japanese Patient with SPG5
por: Nan, Haitian, et al.
Publicado: (2018)

Late-onset pattern macular dystrophy mimicking ABCA4 and PRPH2 disease is caused by a homozygous frameshift mutation in ROM1
por: Ma, Chu Jian, et al.
Publicado: (2019)

Novel homozygous leptin receptor mutation in an infant with monogenic obesity
por: Boro, Hiya, et al.
Publicado: (2023)

A novel frameshift mutation in exon 12 of the adenomatous polyposis coli gene in an Italian family with familial adenomatous polyposis and desmoid tumour
por: Teresa, Vietri Maria, et al.
Publicado: (2010)

A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family
por: Dil, Sobia, et al.
Publicado: (2022)

Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing
por: Bigio, Benedetta, et al.
Publicado: (2021)

A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family
por: Kausar, Mehran, et al.
Publicado: (2019)

A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity
por: Borman, Arundhati Dev, et al.
Publicado: (2014)

Infantile Iatrogenic Cushing Syndrome due to Topical Steroids
por: Alkhuder, Lulwah, et al.
Publicado: (2019)

Whole exome sequencing reveals novel LEPR frameshift mutation in severely obese children from Western India
por: Bhatt, Arpan, et al.
Publicado: (2019)

Erratum to: A novel frameshift mutation in exon 12 of the adenomatous polyposis coli gene in an Italian family with familial adenomatous polyposis and desmoid tumour
por: Teresa, Vietri Maria, et al.
Publicado: (2010)

Early Progressive Dilated Cardiomyopathy in a Family with Becker Muscular Dystrophy Related to a Novel Frameshift Mutation in the Dystrophin Gene Exon 27
por: Tsuda, Takeshi, et al.
Publicado: (2014)

Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
por: Miura, Takeshi, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_r1cvbhq3srs7aam5p5hvc7vdes