What is Nijmegen breakage syndrome like disorder?
Collapse Section. Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly ), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.
What genes are related to Nijmegen breakage syndrome?
Nijmegen breakage syndrome is caused by mutations in the NBN(NBS1) gene located at 8q21. The NBN gene product, nibrin, has been found to interact with at least two other proteins, hMre11 and Rad50.M
What is NBS disease?
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies.E
What is Nbsld?
OMIM® : 57 Nijmegen breakage syndrome-like disorder (NBSLD) is an autosomal recessive disorder characterized by severe prenatal growth retardation and persistent postnatal growth restriction, congenital microcephaly, borderline to mildly impaired intellectual development, normal sexual development, and radioresistant …
What does NBN gene do?
The NBN gene provides instructions for making a protein called nibrin. This protein is involved in several critical cellular functions, including the repair of damaged DNA. Nibrin interacts with two other proteins, produced from the MRE11A and RAD50 genes, as part of a larger protein complex.
What is the inheritance pattern of Bloom syndrome?
Bloom syndrome is inherited in an autosomal recessive pattern. This means that there is a mutation of both copies of the BLM gene in people with Bloom syndrome; and each parent carries one mutant copy and one normal copy. The causative gene has been mapped to chromosomal location 15q26.
What causes Trichothiodystrophy?
What causes trichothiodystrophy? Trichothiodystrophy is caused by defective DNA repair and transcription and is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene that causes trichothiodystrophy for a child to inherit the condition.
What is NBN mutation?
NBN mutation. Your testing shows that you have a pathogenic mutation or a variant that is likely pathogenic in the NBN gene. 2. Cancer risks. You have an increased chance to develop female breast cancer and possibly other cancers such as ovarian cancer.
How common is NBN mutation?
There is a 50/50 random chance to pass on a NBN mutation to your sons and daughters.
What is NBN in genetic testing?
How many people have been diagnosed with Bloom syndrome?
The incidence of Bloom syndrome is unknown, and fewer than 300 affected individuals have been reported. Approximately one-third of people with the disease are of Ashkenazi Jewish descent, making it more common in this population than in others. Roughly 1 in 48,000 Ashkenazi Jews is affected by the disease.
What is the BLM gene?
The BLM gene provides instructions for making a member of a protein family called RecQ helicases. Helicases are enzymes that attach (bind) to DNA and unwind the two spiral strands (double helix) of the DNA molecule.
What do you need to know about OPTOS plc?
About Optos. Optos plc has the vision to be The Retina Company and recognized as a leading provider of devices to eyecare professionals for improved patient care.
Who is the founder and CEO of OPTOS?
Optos was founded by Douglas Anderson with the goal to make a patient-friendly device to capture a digital ultra-widefield image of the retina. Today, millions of patients around the world have benefited from opto map® retinal imaging.
What is the Orpha number for Nijmegen breakage syndrome?
Orpha Number: 647. Disease definition. Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.
How many clinical trials are there for OPTOS?
More than 1,000 published and ongoing clinical trials as well as thousands of case studies and testimonials show the long-term value of opto map imaging and OCT in diagnosis, treatment planning, and patient engagement.