Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal …
Authors of this article are:
Ben Haj Ali A, Amouri A, Sayeb M, Makni S, Hammami W, Naouali C, Dallali H, Romdhane L, Bashamboo A, McElreavey K, Abdelhak S, Messaoud O.
A summary of the article is shown below:
BACKGROUND: Several studies have shown a high rate of consanguinity and endogamy in North African populations. As a result, the frequency of autosomal recessive diseases is relatively high in the region with the co-occurrence of two or more diseases.METHODS: We report here on a consanguineous Libyan family whose child was initially diagnosed as presenting Fanconi anemia (FA) with uncommon skeletal deformities. The chromosome breakage test has been performed using mitomycin C (MMC) while molecular analysis was performed by a combined approach of linkage analysis and whole exome sequencing.RESULTS: Cytogenetic analyses showed that the karyotype of the female patient is 46,XY suggesting the diagnosis of a disorder of sex development (DSD). By looking at the genetic etiology of FA and DSD, we have identified p.[Arg798*];[Arg798*] mutation in FANCJ (OMIM #605882) gene responsible for FA and p.[Arg108*];[Arg1497Trp] in EFCAB6 (Gene #64800) gene responsible for DSD. In addition, we have incidentally discovered a novel mutation p.[Gly1372Arg];[Gly1372Arg] in the ERCC6 (CSB) (OMIM #609413) gene responsible for COFS that might explain the atypical severe skeletal deformities.CONCLUSION: The co-occurrence of clinical and overlapping genetic heterogeneous entities should be taken into consideration for better molecular and genetic counseling.© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
Check out the article’s website on Pubmed for more information:
This article is a good source of information and a good way to become familiar with topics such as: Comorbidity;autozygosity mapping;genetic counseling;incidental findings;whole exome sequencing.
New Chemicals from MOLECULAR DEPOT
-
- Sale!
- Chemicals, Interference, Lipids
Triglyceride Mix for Interference Testing
- Original price was: $495.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Chemicals
Microparticle Stabilizer Solution
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Buffers & Solutions, Chemicals
Enzyme Acceptor Stabilization Buffer
- Original price was: $495.00.$250.00Current price is: $250.00.
- Add to cart
-
- Sale!
- Buffers & Solutions, Chemicals
Enzyme Donor Stabilization Buffer
- Original price was: $495.00.$250.00Current price is: $250.00.
- Add to cart
-
- Sale!
- Chemicals, Conjugates
Progesterone Biotin Conjugate Solution
- Original price was: $650.00.$350.00Current price is: $350.00.
- Add to cart
-
- Sale!
- Buffers & Solutions, Chemicals
Microparticle Activation Buffer
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Buffers & Solutions, Chemicals
Microparticle Washing Buffer
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Buffers & Solutions, Chemicals
Microparticle Blocking Buffer
- Original price was: $650.00.$350.00Current price is: $350.00.
- Add to cart
-
- Sale!
- Buffers & Solutions, Chemicals
Microparticle Anti Aggregation Agent
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Chemicals
CPRG (Chlorophenol red-β-D-galactopyranoside)
- Original price was: $850.00.$395.00Current price is: $395.00.
- Add to cart
New Proteins from MOLECULAR DEPOT
-
- Sale!
- Proteins, Conjugates
Tacrolimus BSA Conjugate Solution
- Original price was: $695.00.$495.00Current price is: $495.00.
- Add to cart
-
- Sale!
- Enzymes, Proteins
Cholesterol Oxidase from Streptomyces sp.
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Proteins
Aprotinin from Bovine Lung (Lyophilized powder)
- Original price was: $450.00.$250.00Current price is: $250.00.
- Add to cart
-
- Sale!
- Proteins, Enzymes
Beta-galactosidase Enzyme Donor
- Original price was: $795.00.$450.00Current price is: $450.00.
- Add to cart
-
- Sale!
- Proteins, Enzymes
Beta-galactosidase Enzyme Acceptor
- Original price was: $795.00.$375.00Current price is: $375.00.
- Add to cart
-
- Sale!
- Enzymes, Proteins
Xanthine Oxidase Grade II (Lyophilized Powder)
- Original price was: $695.00.$395.00Current price is: $395.00.
- Add to cart
-
- Sale!
- Proteins, Enzymes
Ascorbate Oxidase (Lyophilized Powder)
- Original price was: $350.00.$250.00Current price is: $250.00.
- Add to cart
-
- Sale!
- Proteins
Silk Fibroin (Bombyx Mori Silkworm)
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Proteins
Fibrinogen from Bovine Plasma Lyophilized
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Proteins, Enzymes
Horseradish Peroxidase Biotinylated
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
New Antibodies from MOLECULAR DEPOT
-
- Sale!
- Antibodies
Antibody to Thyroxine T4 Monoclonal
- Original price was: $995.00.$495.00Current price is: $495.00.
- Add to cart
-
- Antibodies
SAA Antibody Monoclonal Anti-Serum Amyloid A
- $350.00 – $1,550.00
- Select options
-
- Antibodies
Valproic Acid Antibody (Mouse Monoclonal)
- $250.00 – $1,095.00
- Select options
-
- Antibodies
Phenytoin Antibody (Mouse Monoclonal)
- $350.00 – $1,450.00
- Select options
-
- Sale!
- Antibodies
Anti Sheep IgG (H+L) Rabbit Polyclonal
- $250.00 – $1,495.00
- Select options
-
- Sale!
- Antibodies
Anti Human IgM Antibody Polyclonal
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Antibodies
Myoglobin Antibody (Human Affinity Purified)
- Original price was: $650.00.$350.00Current price is: $350.00.
- Add to cart
-
- Sale!
- Antibodies, Interference
Rheumatoid Factor Interference Blocker
- Original price was: $595.00.$395.00Current price is: $395.00.
- Add to cart
-
- Sale!
- Antibodies, Interference
HAMA Blocking Reagent (Affinity Purified)
- Original price was: $895.00.$450.00Current price is: $450.00.
- Add to cart
New Research Kits from MOLECULAR DEPOT
-
- Sale!
- Interference, Research Kits
Interference Test Kit
- Original price was: $595.00.$395.00Current price is: $395.00.
- Add to cart
-
- Sale!
- Research Kits
Alpha Complementation Kit Beta-galactosidase
- Original price was: $1,395.00.$695.00Current price is: $695.00.
- Add to cart
-
- Sale!
- Research Kits
Crystallization Screen for Protein-DNA Complexes
- Original price was: $1,295.00.$650.00Current price is: $650.00.
- Add to cart
-
- Sale!
- Molecular Biology, Research Kits
NativeFolder Bacterial Culture Medium
- $350.00 – $19,500.00
- Select options
-
- Sale!
- Research Kits
CycloScreen: Cyclodextrins Kit for Screening
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Research Kits
NativePro Bradford Protein Assay Kit (Automated)
- Original price was: $995.00.$495.00Current price is: $495.00.
- Add to cart
-
- Sale!
- Interference, Research Kits
Rheumatoid Factor Interference Kit
- Original price was: $1,495.00.$695.00Current price is: $695.00.
- Add to cart
-
- Sale!
- Interference, Research Kits
Interference Test Kit EXTRA
- Original price was: $795.00.$495.00Current price is: $495.00.
- Add to cart
-
- Sale!
- Interference, Research Kits
HAMA Interference Kit
- Original price was: $895.00.$595.00Current price is: $595.00.
- Add to cart
-
- Sale!
- Buffers & Solutions, ELISA, Research Kits
ELISA Microplate Production Kit
- Original price was: $795.00.$495.00Current price is: $495.00.
- Add to cart