Clinical findings of autosomal-dominant striatal degeneration and PDE8B mutation screening in parkinsonism and related disorders

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.

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Punctate Calcification Group

Bone Dysplasias ◽

10.1093/med/9780190626655.003.0010 ◽

2018 ◽

pp. 351-378

Author(s):

Jürgen W. Spranger ◽

Paula W. Brill ◽

Christine Hall ◽

Gen Nishimura ◽

Andrea Superti-Furga ◽

...

Keyword(s):

Autosomal Dominant ◽

Clinical Findings ◽

Differential Diagnoses ◽

Chondrodysplasia Punctata ◽

Limb Defects ◽

Dominant Type ◽

Radiographic Features ◽

Keutel Syndrome ◽

Punctate Calcification ◽

Autosomal Dominant Type

This chapter discusses punctate calcification group and related disorders and includes discussion on Greenberg dysplasia, chondrodysplasia punctata Conradi-Hünermann type, CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome, chondrodysplasia punctata (rhizomelic type), chondrodysplasia punctata (brachytelephalangic type), chondrodysplasia punctata (autosomal dominant type), chondrodysplasia punctata (tibia-metacarpal type), and Keutel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

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Filamin-Associated Dysplasias/Dysostoses and Related Disorders

Bone Dysplasias ◽

10.1093/med/9780190626655.003.0009 ◽

2018 ◽

pp. 307-350

Author(s):

Jürgen W. Spranger ◽

Paula W. Brill ◽

Christine Hall ◽

Gen Nishimura ◽

Andrea Superti-Furga ◽

...

Keyword(s):

Autosomal Dominant ◽

Clinical Findings ◽

Differential Diagnoses ◽

Type I ◽

Syndrome Type ◽

Type Ii ◽

Radiographic Features ◽

Larsen Syndrome ◽

Otopalatodigital Syndrome

This chapter discusses filamin-associated dysplasias/dysostoses and related disorders and includes discussion on otopalatodigital syndrome type 1, otopalatodigital syndrome type II, Melnick-Needles osteodysplasty, frontometaphyseal dysplasia, boomerang dysplasia/atelosteogenesis type I, atelosteogenesis type III, Larsen syndrome (autosomal dominant), spondylocarpotarsal synostosis syndrome, and Frank-ter Haar syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

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Pachydermoperiostosis, Autosomal Dominant (Mim 167100)

Bone Dysplasias ◽

10.1093/med/9780195396089.003.0109 ◽

2012 ◽

pp. 473-476

Author(s):

Jürgen W. Spranger ◽

Paula W. Brill ◽

Gen Nishimura ◽

Andrea Superti-Furga ◽

Sheila Unger

Keyword(s):

Autosomal Dominant ◽

Clinical Findings ◽

Differential Diagnoses ◽

Radiographic Features

Chapter 109 covers pachydermoperiostosis, autosomal dominant (MIM 167100), including major clinical findings, radiographic features, and differential diagnoses.

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Genetic testing for Mendelian myopia

The EuroBiotech Journal ◽

10.24190/issn2564-615x/2017/s1.23 ◽

2017 ◽

Vol 1 (s1) ◽

pp. 74-76

Author(s):

Andi Abeshi ◽

Pamela Coppola ◽

Tommaso Beccari ◽

Munis Dundar ◽

Leonardo Colombo ◽

...

Keyword(s):

Risk Assessment ◽

Genetic Testing ◽

Clinical Utility ◽

Autosomal Recessive ◽

Autosomal Dominant ◽

Scientific Literature ◽

Genetic Test ◽

Clinical Findings ◽

Ophthalmological Examination ◽

Recessive Transmission

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Mendelian myopia (MM), a large and heterogeneous group of inherited refraction disorders. Variations in the SLC39A5, SCO2 and COL2A1 genes have an autosomal dominant transmission, whereas those in the LRPAP1, P3H2, LRP2 and SLITRK6 genes have autosomal recessive transmission. The prevalence of MM is currently unknown. Clinical diagnosis is based on clinical findings, family history, ophthalmological examination and other tests depending on complications. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

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POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss

PLoS ONE ◽

10.1371/journal.pone.0177636 ◽

2017 ◽

Vol 12 (5) ◽

pp. e0177636 ◽

Cited By ~ 17

Author(s):

Tomohiro Kitano ◽

Maiko Miyagawa ◽

Shin-ya Nishio ◽

Hideaki Moteki ◽

Kiyoshi Oda ◽

...

Keyword(s):

Hearing Loss ◽

Dna Sequencing ◽

Autosomal Dominant ◽

Mutation Screening ◽

Massively Parallel ◽

Novel Variants ◽

Massively Parallel Dna Sequencing

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Noonan syndrome: a clinical and genetic study of 31 patients

Revista do Hospital das Clínicas ◽

10.1590/s0041-87811999000500003 ◽

1999 ◽

Vol 54 (5) ◽

pp. 147-150 ◽

Cited By ~ 16

Author(s):

Débora Romeo Bertola ◽

Sofia M. M. Sugayama ◽

Lilian Maria José Albano ◽

Ae Kim Chong ◽

Claudette Hajaj Gonzalez

Keyword(s):

Congenital Anomaly ◽

Short Stature ◽

Family Member ◽

Genetic Study ◽

Noonan Syndrome ◽

Autosomal Dominant ◽

Clinical Findings ◽

Multiple Congenital Anomaly ◽

Genetic Characteristics ◽

Cardiac Anomalies

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%); cardiac anomalies (65%), and fetal pads in fingers and toes (70%). After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

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Description of an ELANE Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings

Journal of Pediatric Genetics ◽

10.1055/s-0038-1670724 ◽

2018 ◽

Vol 08 (01) ◽

pp. 033-037

Author(s):

Labrini Damianidou ◽

Theodotis Papageorgiou ◽

Athanasios Tragiannidis ◽

Katerina Haidopoulou ◽

Andreas Giannopoulos ◽

...

Keyword(s):

Genetic Screening ◽

Autosomal Dominant ◽

Respiratory Infections ◽

Clinical Findings ◽

Diagnostic Strategy ◽

Severe Congenital Neutropenia ◽

Dominant Inheritance ◽

Congenital Neutropenia ◽

Exon 2 ◽

Detailed Medical History

AbstractWe describe the case of a 5-year-old girl with severe congenital neutropenia presenting with recurrent skin and respiratory infections. Sequence analysis of ELANE and HAX1 genes identified a mutation in heterozygous state in exon 2 of the ELANE gene: c.157C > G (p.His53Asp), not previously described in the literature at the exon coding level. Given the autosomal dominant inheritance and the location of the mutation within a “hotspot,” this mutation was considered as clinically relevant. ELANE should be screened in patients with congenital neutropenia of no obvious etiology. A detailed medical history and clinical evaluation can prevent unnecessary investigations allowing for a targeted diagnostic strategy.

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Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease

Nephrology Dialysis Transplantation ◽

10.1093/ndt/gfy261 ◽

2018 ◽

Vol 34 (9) ◽

pp. 1453-1460 ◽

Cited By ~ 7

Author(s):

Matthew B Lanktree ◽

Ioan-Andrei Iliuta ◽

Amirreza Haghighi ◽

Xuewen Song ◽

York Pei

Keyword(s):

Genetic Testing ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Mutation Screening ◽

Cystic Kidney Disease ◽

Cystic Kidney ◽

Polycystic Kidney ◽

Autosomal Dominant Polycystic Kidney

Abstract Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by mutations of two genes, PKD1 and PKD2. In the presence of a positive family history of ADPKD, genetic testing is currently seldom indicated as the diagnosis is mostly based on imaging studies using well-established criteria. Moreover, PKD1 mutation screening is technically challenging due to its large size, complexity (i.e. presence of six pseudogenes with high levels of DNA sequence similarity) and extensive allelic heterogeneity. Despite these limitations, recent studies have delineated a strong genotype–phenotype correlation in ADPKD and begun to unravel the role of genetics underlying cases with atypical phenotypes. Furthermore, adaptation of next-generation sequencing (NGS) to clinical PKD genetic testing will provide a high-throughput, accurate and comprehensive screen of multiple cystic disease and modifier genes at a reduced cost. In this review, we discuss the evolving indications of genetic testing in ADPKD and how NGS-based screening promises to yield clinically important prognostic information for both typical as well as unusual genetic (e.g. allelic or genic interactions, somatic mosaicism, cystic kidney disease modifiers) cases to advance personalized medicine in the era of novel therapeutics for ADPKD.

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