scholarly journals Genetic testing for Hennekam syndrome

2018 ◽  
Vol 2 (s1) ◽  
pp. 16-18
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Matteo Bertelli
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Autosomal Recessive ◽  
Genetic Test ◽  
Autosomal Recessive Inheritance ◽  
Lymphatic Malformation ◽  
Recessive Inheritance ◽  
Test Protocol ◽  
Research Findings ◽  
Hennekam Syndrome

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.

scholarly journals Genetic testing for Bardet-Biedl syndrome

2017 ◽  
Vol 1 (s1) ◽  
pp. 14-16
Author(s):  
Andi Abeshi ◽  
Francesca Fanelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Fabiana D’Esposito ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Scientific Literature ◽  
Genetic Test ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Bardet Biedl Syndrome

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Bardet- Biedl syndrome (BBS). The disease has autosomal recessive inheritance, a prevalence varying from one in 13 500 to one in 160 000, and is caused by mutations in the ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CEP290, IFT172, IFT27, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TRIM32, TTC8 and WDPCP genes. The clinical diagnosis of BBS is based on four primary features or three primary features plus two secondary features. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for Bietti crystalline dystrophy

2017 ◽  
Vol 1 (s1) ◽  
pp. 20-22
Author(s):  
Andi Abeshi ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Lucia Ziccardi ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Scientific Literature ◽  
Genetic Test ◽  
Autosomal Recessive Inheritance ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Recessive Inheritance ◽  
Bietti Crystalline Dystrophy

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.

scholarly journals Genetic testing for achromatopsia

2017 ◽  
Vol 1 (s1) ◽  
pp. 11-13
Author(s):  
Andi Abeshi ◽  
Alessandra Zulian ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Benedetto Falsini ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Differential Diagnosis ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Scientific Literature ◽  
Autosomal Recessive Inheritance ◽  
Ophthalmological Examination ◽  
Recessive Inheritance

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for achromatopsia. The disease has autosomal recessive inheritance, a prevalence of 1/30000-1/50000, and is caused by mutations in the CNGB3, CNGA3, GNAT2, PDE6C, ATF6 and PDE6H genes. Clinical diagnosis is by ophthalmological examination, color vision testing and electrophysiological testing. Genetic testing is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for lymphedema in RASopathies

2018 ◽  
Vol 2 (s1) ◽  
pp. 10-12
Author(s):  
Stefano Paolacci ◽  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Alice Bruson ◽  
Matteo Bertelli
Keyword(s):  
Risk Assessment ◽  
Signal Transduction ◽  
Genetic Test ◽  
Signal Transduction Pathway ◽  
Mitogen Activated Protein Kinase ◽  
Transduction Pathway ◽  
Test Protocol ◽  
Lymphatic Malformations ◽  
Mitogen Activated Protein ◽  
Research Findings

AbstractVariants 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.

scholarly journals Genetic testing for enhanced S-cone syndrome

2017 ◽  
Vol 1 (s1) ◽  
pp. 48-50
Author(s):  
Andi Abeshi ◽  
Carla Marinelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Fabiana D’Esposito ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Scientific Literature ◽  
Genetic Test ◽  
Autosomal Recessive Inheritance ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Recessive Inheritance ◽  
Enhanced S Cone Syndrome

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for enhanced S-cone syndrome (ESCS). The disease has autosomal recessive inheritance, a prevalence of less than one per million, and is caused by mutations in the NR2E3 gene. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography, color vision testing and optical coherence tomography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for ocular albinism and oculocutaneous albinism

2017 ◽  
Vol 1 (s1) ◽  
pp. 80-82
Author(s):  
Andi Abeshi ◽  
Carla Marinelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Benedetto Falsini ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Scientific Literature ◽  
Genetic Test ◽  
Autosomal Recessive Inheritance ◽  
Oculocutaneous Albinism ◽  
Ophthalmological Examination ◽  
Recessive Inheritance ◽  
Ocular Albinism

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular albinism and oculocutaneous albinism. Ocular albinism has X-linked recessive inheritance, with a prevalence that varies from 1/40000 to 1/1000000, and is caused by mutations in the GPR143 and CACNA1F genes. Oculocutaneous albinism has autosomal recessive inheritance, with an overall prevalence of 1/17000, and is caused by mutations in the TYR, OCA2, TYRP1, SLC45A2, SLC24A5 and C10orf11 genes. Clinical diagnosis involves ophthalmological examination, testing of visually evoked potentials (VEP) and electrophysiological testing (ERG). The genetic test is useful for confirming diagnosis, differential diagnosis, for couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for cone rod dystrophies

2017 ◽  
Vol 1 (s1) ◽  
pp. 35-37
Author(s):  
Andi Abeshi ◽  
Alessandra Zulian ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Lucia Ziccardi ◽  
...  
Keyword(s):  
Clinical Utility ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Autosomal Recessive Inheritance ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Recessive Inheritance ◽  
Recessive Transmission

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for cone rod dystrophies (CORDs). CORDs are caused by variations in the ABCA4, ADAM9, AIPL1, C8orf37, CACNA1F, CACNA2D4, CDHR1, CNGA3, CRX, DRAM2, GUCA1A, GUCY2D, HRG4, KCNV2, PDE6C, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RIMS1, RPGRIP1, RPGR SEMA4A, TTLL5 genes, with an overall prevalence of 1 per 40 000. Most genes have autosomal recessive inheritance; the others have autosomal dominant or X-linked recessive transmission. Clinical diagnosis is based on clinical findings, color vision testing, ophthalmological examination and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

Pelizaeus Merzbacher phenotype with epilepsy and autosomal recessive inheritance in two siblings

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
U Gaiser ◽  
J Neuberger ◽  
E Regel ◽  
R Emmert ◽  
M Ries
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance

TYPICAL CASES OF ISOLATED GROWTH HORMONE DEFICIENCY WITH AUTOSOMAL RECESSIVE INHERITANCE

1970 ◽  
Vol 63 (4) ◽  
pp. 618-624 ◽  
Author(s):  
Y. Kumahara ◽  
Y. Okada ◽  
K. Miyai ◽  
H. Iwatsubo
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Adult Subject ◽  
Hormone Deficiency ◽  
Recessive Inheritance ◽  
Arginine Infusion ◽  
Isolated Growth Hormone Deficiency ◽  
Male Dwarf

ABSTRACT A 25-year-old male dwarf and his sister, a 31-year-old woman were investigated. Their respective heights were 114 and 97 cm with proportional statures. Their bone ages were that found in the adult subject. Thyroid functions and metyrapone test were normal and the total urinary gonadotrophin was determined in both cases. HGH secretion was not stimulated by insulin-induced hypoglycaemia, arginine infusion or exercise. Their parents and six other siblings were normal in height. The two patients were therefore assumed to be suffering from an isolated growth hormone deficiency with autosomal recessive inheritance.

scholarly journals Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.

1991 ◽  
Vol 28 (4) ◽  
pp. 277-279 ◽  
Author(s):  
J C de Almeida ◽  
D F Reis ◽  
J Llerena Junior ◽  
J Barbosa Neto ◽  
R L Pontes ◽  
...  
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Peters Anomaly
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