scholarly journals Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct

1999 ◽  
Vol 83 (1) ◽  
pp. 115-119 ◽  
Author(s):  
M. Callaghan ◽  
C. K Hand ◽  
S. M Kennedy ◽  
J S. FitzSimon ◽  
L. M T Collum ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Homozygosity Mapping ◽  
Congenital Hereditary Endothelial Dystrophy

Recent Advances in Gene Mapping of Skin Diseases: Pseudoxanthoma Elasticum: A Satisfying Sibling Study

1999 ◽  
Vol 3 (3) ◽  
pp. 154-156 ◽  
Author(s):  
Sherri J. Bale
Keyword(s):  
Linkage Analysis ◽  
Autosomal Recessive ◽  
Recent Progress ◽  
Autosomal Dominant ◽  
Skin Diseases ◽  
Pseudoxanthoma Elasticum ◽  
Molecular Defect ◽  
Parametric Linkage Analysis ◽  
Affected Sib Pair ◽  
Made In

Background: A review of the recent progress made in mapping of the hereditary skin disease pseudoxanthoma elasticum is presented. Methods: Affected sib pair methods, parametric linkage analysis, and linkage heterogeneity tests are reviewed as applied to the effort to identify the location of the pseudoxanthoma elasticum gene. Results: Families segregating either autosomal dominant or autosomal recessive pseudoxanthoma elasticum mapped to chromosome 16p13.1. Conclusion: There is a gene for pseudoxanthoma elasticum on chromosome 16p. The underlying molecular defect remains to be elucidated.

Localization of the Gene for Autosomal Recessive Congenital Hereditary Endothelial Dystrophy (CHED2) to Chromosome 20 by Homozygosity Mapping

Genomics ◽  
1999 ◽  
Vol 61 (1) ◽  
pp. 1-4 ◽  
Author(s):  
Collette K. Hand ◽  
Dawn L. Harmon ◽  
Susan M. Kennedy ◽  
J.Susan FitzSimon ◽  
Louis M.T. Collum ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Homozygosity Mapping ◽  
Chromosome 20 ◽  
Congenital Hereditary Endothelial Dystrophy

scholarly journals Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly

Blood ◽  
2011 ◽  
Vol 117 (12) ◽  
pp. 3430-3434 ◽  
Author(s):  
Shay Fabbro ◽  
Walter H. A. Kahr ◽  
Jesse Hinckley ◽  
Kai Wang ◽  
Jack Moseley ◽  
...  
Keyword(s):  
Native American ◽  
Linkage Analysis ◽  
Critical Region ◽  
Autosomal Recessive ◽  
Homozygosity Mapping ◽  
Affected Patient ◽  
Pakistani Origin ◽  
Recessive Locus ◽  
Gray Platelet Syndrome ◽  
Autosomal Recessive Manner

Abstract Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by thrombocytopenia and the absence of α-granules in platelets. Patients with GPS present with mild to moderate bleeding and many develop myelofibrosis. The genetic cause of GPS is unknown. We present 2 Native American families with a total of 5 affected persons and a single affected patient of Pakistani origin in which GPS appears to be inherited in an autosomal recessive manner. Homozygosity mapping using the Affymetrix 6.0 chips demonstrates that all 6 GPS-affected persons studied are homozygous for a 1.7-Mb region in 3p21. Linkage analysis confirmed the region with a logarithm of the odds score of 2.7. Data from our families enabled us to significantly decrease the size of the critical region for GPS from the previously reported 9.4-Mb region at 3p21.

scholarly journals First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

2019 ◽  
Vol 17 (1) ◽  
Author(s):  
Dominika Oziębło ◽  
Anna Sarosiak ◽  
Marcin L. Leja ◽  
Birgit S. Budde ◽  
Grażyna Tacikowska ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Linkage Analysis ◽  
Segregation Analysis ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
German Family ◽  
Clinical Exome Sequencing ◽  
Genome Wide ◽  
Syndromic Hearing Loss ◽  
Family Segregation

Abstract Background Biallelic PTPRQ pathogenic variants have been previously reported as causative for autosomal recessive non-syndromic hearing loss. In 2018 the first heterozygous PTPRQ variant has been implicated in the development of autosomal dominant non-syndromic hearing loss (ADNSHL) in a German family. The study presented the only, so far known, PTPRQ pathogenic variant (c.6881G>A) in ADNSHL. It is located in the last PTPRQ coding exon and introduces a premature stop codon (p.Trp2294*). Methods A five-generation Polish family with ADNSHL was recruited for the study (n = 14). Thorough audiological, neurotological and imaging studies were carried out to precisely define the phenotype. Genomic DNA was isolated from peripheral blood samples or buccal swabs of available family members. Clinical exome sequencing was conducted for the proband. Family segregation analysis of the identified variants was performed using Sanger sequencing. Single nucleotide polymorphism array on DNA samples from the Polish and the original German family was used for genome-wide linkage analysis. Results Combining clinical exome sequencing and family segregation analysis, we have identified the same (NM_001145026.2:c.6881G>A, NP_001138498.1:p.Trp2294*) PTPRQ alteration in the Polish ADNSHL family. Using genome-wide linkage analysis, we found that the studied family and the original German family derive from a common ancestor. Deep phenotyping of the affected individuals showed that in contrast to the recessive form, the PTPRQ-related ADNSHL is not associated with vestibular dysfunction. In both families ADNSHL was progressive, affected mainly high frequencies and had a variable age of onset. Conclusion Our data provide the first confirmation of PTPRQ involvement in ADNSHL. The finding strongly reinforces the inclusion of PTPRQ to the small set of genes leading to both autosomal recessive and dominant hearing loss.

Can progression of autosomal dominant or autosomal recessive polycystic kidney disease be prevented?

2001 ◽  
Vol 21 (5) ◽  
pp. 430-440 ◽  
Author(s):  
Ira D. Davis ◽  
Katherine MacRae Dell ◽  
William E. Sweeney ◽  
Ellis D. Avner
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Polycystic Kidney

scholarly journals ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

Neurogenetics ◽  
2021 ◽  
Author(s):  
Katja Kloth ◽  
Bernarda Lozic ◽  
Julia Tagoe ◽  
Mariëtte J. V. Hoffer ◽  
Amelie Van der Ven ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Neuronal Development ◽  
Autosomal Dominant ◽  
Tissue Expression ◽  
Autism Spectrum ◽  
Loss Of Function ◽  
Ankyrin G ◽  
Phenotypic Spectrum ◽  
And Function ◽  
Neurodevelopmental Phenotype

AbstractANK3 encodes multiple isoforms of ankyrin-G, resulting in variegated tissue expression and function, especially regarding its role in neuronal development. Based on the zygosity, location, and type, ANK3 variants result in different neurodevelopmental phenotypes. Autism spectrum disorder has been associated with heterozygous missense variants in ANK3, whereas a more severe neurodevelopmental phenotype is caused by isoform-dependent, autosomal-dominant, or autosomal-recessive loss-of-function variants. Here, we present four individuals affected by a variable neurodevelopmental phenotype harboring a heterozygous frameshift or nonsense variant affecting all ANK3 transcripts. Thus, we provide further evidence of an isoform-based phenotypic continuum underlying ANK3-associated pathologies and expand its phenotypic spectrum.

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

Blood ◽  
2002 ◽  
Vol 100 (2) ◽  
pp. 692-694 ◽  
Author(s):  
Daniel F. Wallace ◽  
Palle Pedersen ◽  
Jeannette L. Dixon ◽  
Peter Stephenson ◽  
Jeffrey W. Searle ◽  
...  
Keyword(s):  
Iron Transport ◽  
Autosomal Recessive ◽  
Iron Homeostasis ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Hfe Gene ◽  
Excess Iron ◽  
Chromosome 1Q ◽  
Australian Family ◽  
Autosomal Recessive Pattern

Abstract Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE–related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromosome 1q. Autosomal dominant forms of hemochromatosis have also been described. Recently, 2 mutations in theferroportin1 gene, which encodes the iron transport protein ferroportin1, have been implicated in families with autosomal dominant hemochromatosis from the Netherlands and Italy. We report the finding of a novel mutation (V162del) in ferroportin1 in an Australian family with autosomal dominant hemochromatosis. We propose that this mutation disrupts the function of the ferroportin1 protein, leading to impaired iron homeostasis and iron overload.

Genomic features of lung cancer patients harboring germline mutations associated with hereditary cancer syndromes.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e20511-e20511
Author(s):  
Jian Sun ◽  
Weiran Wang ◽  
Danhua Wang ◽  
Hongling Yuan ◽  
Tonghui Ma
Keyword(s):  
Lung Cancer ◽  
Cancer Patients ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Germline Mutations ◽  
Autosomal Dominant Inheritance ◽  
Recessive Inheritance ◽  
Dominant Inheritance ◽  
Lung Cancer Patients

e20511 Background: Smoking and air pollution are the major causes of lung cancer; however, numerous studies have demonstrated that genetic factors also contribute to the development of lung cancer. Here, we reported an analysis of genomic features in 65 lung cancer patients with autosomal-dominant or autosomal-recessive inheritance of germline mutations. Methods: We retrospectively reviewed next-generation sequencing data of 26,904 lung cancer patients in a Chinese cohort. The germline mutation patterns, as well as the co-occurrence with somatic driver mutations were analyzed. Results: A total of 65 (0.24%) patients with heterozygous germline mutations associated with hereditary cancer syndromes were detected, including 27 (0.10%) patients with autosomal-dominant inheritance (BRCA1, BRCA2, RET and TP53) and 38 (0.14%) patients with autosomal-recessive inheritance (ATM, BLM, FANCA, FANCG, MUTYH, NBN, RECQL4 and WRN). Comparing to patients with autosomal-dominant inheritance (Age 56±17.8), patients with autosomal-recessive inheritance (Age 65±11.7, P = 0.009) were older, and there is no gender difference. Additionally, 66.7% (18/27) of patients with autosomal-dominant inheritance were identified co-mutated actionable variations, such as 12 patients harboring mutations in exon 18–21 of EGFR, 2 patients harboring ERBB2 exon 20 insertions, 3 patients harboring mutations in exon 2 of KRAS and 1 patient harboring EML4-ALK fusion. The coexistence of germline autosomal-dominant mutations and somatic driver mutations indicated that germline mutations have weak impact on lung cancer. Simultaneously, 52.6% (20/38) of patients with autosomal-recessive inheritance were identified co-mutated actionable variations, such as 15 EGFR+ patients, 2 ERBB2+ patients and 3 KRAS+ patients. And there was no significant difference in population frequency of co-mutated actionable variations between the two groups. Conclusions: In summary, studies on germline mutations of lung cancer patients may help to elucidate the etiology and mechanism of lung cancer, and may help for early detection and diagnosis, targeted therapy and improved prevention strategies.

scholarly journals Atypical presentation of Goldenher syndrome- a rare scenario

2014 ◽  
Vol 9 (4) ◽  
pp. 51-54
Author(s):  
C Lath ◽  
S Sen ◽  
M Mondal ◽  
D Maiti ◽  
R Singh ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Chromosomal Analysis ◽  
Ocular Involvement ◽  
Atypical Presentation ◽  
Medical Sciences ◽  
Multifactorial Inheritance ◽  
Mandibular Hypoplasia ◽  
Exact Etiology ◽  
Vertebral Anomalies

In 1952 Goldenher described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenger Syndrome. Exact etiology of this disease is not known. Here we present a case of Goldenher syndrome in a 5 days old newborn who presented with all the classical features except ocular involvement.   Gorlin et.al named this syndrome as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies .2 Exact etiology of this disease is not known. Most of the cases are sporadic, though autosomal recessive, autosomal dominant and multifactorial inheritance has also been suggested.2.Chromosomal analysis shows no abnormalities.3 In this report we presented a case of Goldenger Syndrome in a 5 days old newborn who presented with all the classical features except occular involvement. Journal of College of Medical Sciences-Nepal, 2013, Vol-9, No-4, 59-62 DOI: http://dx.doi.org/10.3126/jcmsn.v9i4.10239

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