Cover Image

Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing

Dystrophic epidermolysis bullosa is an inherited skin disorder characterized by fragile skin that is prone to blistering. We report here a consanguineous Pakistani family with two siblings, in whom a severe recessive dystrophic epidermolysis bullosa was suspected. Using whole-exome sequencing for on...

Full description

Saved in:

Bibliographic Details
Main Authors:	Syed Ashraf Uddin (Author), Nicole Cesarato (Author), Aytaj Humbatova (Author), Axel Schmidt (Author), Fazal urRehman (Author), Muhammad Naeem (Author), Abdul Samad Tareen (Author), Sabrina Wolf (Author), Muhammad Anwar Panezai (Author), Holger Thiele (Author), Abdul Wali (Author), Regina Fölster-Holst (Author), Sulman Basit (Author), Muhammad Ayub (Author), Regina C. Betz (Author)
Format:	Book
Published:	Medical Journals Sweden, 2020-09-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant
by: Patrícia Amoedo, et al.
Published: (2024)

Classical Hand, Foot and Mouth Disease Replaced by Atypical Hand, Foot and Mouth Disease
by: Regina Fölster-Holst
Published: (2018)

A novel and apparent de novo ALAS2 missense variant associated with congenital sideroblastic anemia
by: Jianling Cai, et al.
Published: (2024)

A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa
by: Q. Yuan, et al.
Published: (2020)

Novel heterozygous COL7A1 mutation in a patient with de-novo dominant dystrophic epidermolysis bullosa pruriginosa
by: Tasya Rakasiwi, BS, et al.
Published: (2021)

Cytosine Deaminase Base Editing to Restore COL7A1 in Dystrophic Epidermolysis Bullosa Human: Murine Skin Model
by: Gaetano Naso, et al.
Published: (2023)

A case of dominant dystrophic epidermolysis bullosa pruriginosa with a novel mutation in the hinge region of COL7A1
by: Azusa Ida, et al.
Published: (2024)

Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes
by: Cristina Chamorro, et al.
Published: (2016)

Novel frameshift mutations in XPC gene underlie xeroderma pigmentosum in Pakistani families
by: Ambreen Ijaz, et al.
Published: (2021)

Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations
by: Liliana Guerra, et al.
Published: (2018)

A non-viral and selection-free COL7A1 HDR approach with improved safety profile for dystrophic epidermolysis bullosa
by: Thomas Kocher, et al.
Published: (2021)

Missense Variants in <i>COL4A1/2</i> Are Associated with Cerebral Aneurysms: A Case Report and Literature Review
by: Masahiro Uemura, et al.
Published: (2024)

Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair
by: Araksya Izmiryan, et al.
Published: (2018)

Genetic analysis and prenatal diagnosis of recessive dystrophic epidermolysis bullosa caused by compound heterozygous variants of the COL7A1 gene in a Chinese family
by: Yu Wang, et al.
Published: (2022)

Familial Aggregation of a Novel Missense Variant of <i>COL2A1</i> Gene Associated with Short Extremities: Case Report and Review of the Literature
by: Panagiotis Christopoulos, et al.
Published: (2022)

Characterization of Classical Flexural and Nummular Forms of Atopic Dermatitis in Childhood with Regard to Anamnestic, Clinical and Epidermal Barrier Aspects
by: Folke Hüppop, et al.
Published: (2022)

Heir Apparent
by: Nourse, Alan Edward, 1928-1992; Terry, W. E., 1921-1992 [Illustrator]

Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy
by: Majed Alluqmani, et al.
Published: (2022)

Apparate Über Regierungsverfahren und Algorithmisierung /
Published: (2024)

Pretibial dystrophic epidermolysis bullosa
by: Elisabeth de Albuquerque Cavalcanti Callegaro, et al.
Published: (2017)

Novel variant c.7795-1G>A of COL7A1 gene in a 12-month-old female child with recessive dystrophic epidermolysis bullosa treated with dupilumab
by: Francesca Caroppo, MD, et al.
Published: (2024)

Juge et Apparence(s)
by: Nathalie Jacquinot
Published: (2010)

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (<it>CDMP1</it>) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family
by: Ansar Muhammad, et al.
Published: (2008)

Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)
by: Muhammad Umair, et al.
Published: (2019)

A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia
by: Kheloud M. Alhamoudi, et al.
Published: (2020)

Dystrophic epidermolysis bullosa in a child
by: Uma Eswara
Published: (2012)

Dystrophic epidermolysis bullosa: a review
by: Shinkuma S
Published: (2015)

Distinguishing dystrophic calcification from calciphylaxis
by: Elizabeth Jones, MD, et al.
Published: (2023)

Idiopathic Perimenopausal Dystrophic Calcinosis Cuits
by: Parthiban M, et al.
Published: (1998)

Base editing in humanized dystrophic mice
by: Chen Zhang, et al.
Published: (2024)

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
by: Amjad Khan, et al.
Published: (2019)

Whorled Scarring Alopecia: A Rare Cutaneous Finding in Incontinentia Pigmenti or Overlooked Phenomenon? A Case Report of Incontinentia Pigmenti with Trichoscopic and Dermoscopic Findings
by: Tubanur Çetinarslan, et al.
Published: (2024)

Twenty-five practical recommendations in primary care dermoscopy
by: Antonio Chuh, et al.
Published: (2020)

The Heir Presumptive and the Heir Apparent
by: Oliphant, Mrs. (Margaret), 1828-1897

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
by: Amjad Khan, et al.
Published: (2019)

Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome
by: Chih-Ping Chen, et al.
Published: (2013)

Rehabilitation in patients with involutional-dystrophic skin changes
by: I. Badyin
Published: (2021)

A case of dystrophic calcification in the masseter muscle
by: Heon-Young Kim, et al.
Published: (2017)

Dystrophic epidermolysis bullosa: genotype-phenotype correlations
by: Alexey A. Kubanov, et al.
Published: (2023)

Verruciform xanthoma in recessive dystrophic epidermolysis bullosa
by: Cheng-Ying Chiang, et al.
Published: (2020)