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Andi Abeshi, Alice Bruson, Tommaso Beccari, Munis Dundar, Leonardo Colombo and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for color vision deficiency (CVD). Deuteranopia affects 1 in 12 males and is inherited in an X-linked recessive manner. It is associated with variations in the OPN1LW (OMIM gene: 300822; OMIM disease: 303900) and OPN1MW (OMIM gene: 300821; OMIM disease: 303800) genes. Tritanopia has a prevalence of 1 in 10 000, is inherited in an autosomal dominant manner, and is related to variations in the OPN1SW (OMIM gene: 613522; OMIM disease: 190900) gene. Blue cone monochromatism has a prevalence of 1 in 100 000, is inherited in an X-linked recessive manner and is related to mutations in the OPN1LW (OMIM gene: 300822; OMIM disease: 303700) and OPN1MW (OMIM gene: 300821; OMIM disease: 303700) genes. Clinical diagnosis is based on clinical findings, ophthalmogical examination, family history, electroretingraphy, color vision testing and dark adaptometry. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Andi Abeshi, Alice Bruson, Tommaso Beccari, Munis Dundar, Lucia Ziccardi and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for Bietti crystalline dystrophy (BCD). The disease has autosomal recessive inheritance, a prevalence of 1 per 67 000, and is caused by mutations in the CYP4V2 gene. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography and optical coherence tomography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Sandro Michelini, Mrco Cardone, Paolo Maltese, Alice Bruson, Alessandro Fiorentino and Matteo Bertelli

Abstract

Primary lymphedema can be familial (in which more than one member of the same family has a lymphedema phenotype), syndromic (in which lymphedema is one symptom of a complex clinical syndrome) or sporadic (in which an isolated family member has lymphedema). All types of lymphedema are determined by genetic alteration of one or more genes. Not all the genes involved are known.

Open access

Andi Abeshi, Alice Bruson, Tommaso Beccari, Munis Dundar, Leonardo Colombo and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Usher syndrome (USH). USH is mostly transmitted in an autosomal recessive manner and is caused by variations in the ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN genes. Prevalence is estimated to be 1:30,000. Clinical diagnosis is based on audiogram, vestibular tests, visual acuity test, fundus examination, color test, optical coherence tomography and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Andi Abeshi, Alice Bruson, Tommaso Beccari, Munis Dundar, Benedetto Falsini and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for optic atrophy (OA). OA is mostly inherited in an autosomal dominant manner, rarely in an autosomal recessive manner, with an overall prevalence of 3/100,000 live births. It is caused by mutations in the OPA1, OPA3 and TMEM126A genes. Clinical diagnosis is based on clinical findings, ophthalmological examination, OCT, visual evoked potentials (VEPs) and electroretinography. The genetic test is useful for confirming diagnosis, differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Yeltay Rakhmanov, Paolo Enrico Maltese, Stefano Paolacci, Alice Bruson and Matteo Bertelli

Abstract

Emberger Syndrome (ES) is a very rare genetic disorder associated with primary lymphedema, myelodysplasia and immunodeficiency. The syndrome has autosomal dominant inheritance with incomplete penetrance. Sporadic cases caused by de novo germinal mutations in the GATA2 gene have also been described. We developed the test protocol on the basis of the latest research findings and diagnostic protocols on lymphatic malformation in ES. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Yeltay Rakhmanov, Paolo Enrico Maltese, Alice Bruson, Tommaso Beccari and Matteo Bertelli

Abstract

Hennekam Syndrome (HS) is a combination of congenital lymphatic malformation, lymphangiectasia and other disorders. It is a very rare disorder with autosomal recessive inheritance. We developed the test protocol “Hennekam Syndrome” on the basis of the latest research findings and diagnostic protocols on lymphatic malformation in HS. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Stefano Paolacci, Yeltay Rakhmanov, Paolo Enrico Maltese, Alice Bruson and Matteo Bertelli

Abstract

Variants affecting the function of genes in the RAS–mitogen-activated protein kinase (MAPK) signal transduction pathway have been identified as responsible for a group of developmental syndromes known as RASopathies. Noonan (NS) and cardiofaciocutaneous syndromes (CFC) represent the most frequent and best characterized RASopathies. Many cases of RASopathies are associated with lymphatic malformations that finally may result in lymphedema. We developed the test protocol “Lymphedema in RASopathies” on the basis of the latest research findings and diagnostic protocols on lymphatic malformation in RASopathies. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Paolo Enrico Maltese, Yeltay Rakhmanov, Alice Bruson, Lorenzo Lorusso and Matteo Bertelli

Abstract

Stroke is defined as a focal or at times global neurological impairment of sudden onset and presumed vascular origin. 85% of strokes are due to cerebral ischemia and the other 15% to primary intracerebral hemorrhage.

Ischemic stroke (IS) is characterized by complete or partial obstruction of a vessel in the brain, resulting in lack of blood supply and death of brain tissue. The most common causes of IS are atherosclerosis, cardioembolism and small-vessel disease (lacunar stroke). Genetic factors play important role. Incidence rates for IS in the 15- to 45-year age range are ≈10 per 100,000 person years.

Hemorrhagic stroke (HS) is the least treatable and the most fatal form of cerebrovascular disease. Genetic mechanisms play a role in its development. Occurrence depends on many risk factors, including hypertension, heavy alcohol intake and anticoagulant treatment. According to the World Health Organization, 15 million people suffer stroke worldwide each year. The overall incidence of spontaneous HS worldwide is 24.6 per 100,000 person years. Strokes are the third most common cause of death and the most common cause of disability in developed countries.

This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Andi Abeshi, Alice Bruson, Tommaso Beccari, Munis Dundar, Fabiana D’Esposito and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for X-linked juvenile retinoschisis (XJR). The disease has X-linked inheritance, a prevalence that varies from one in 5000 to one in 25000 males, and is caused by mutations in the RS1 gene. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography and optical coherence tomography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.