Autosomal dominant inheritance in a recently described ZMIZ1‐ related neurodevelopmental disorder: Case report of siblings and an affected parent

2019 ◽  
Vol 182 (3) ◽  
pp. 548-552
Author(s):  
Kumarie Latchman ◽  
Madison Calder ◽  
Dayna Morel ◽  
Lindsay Rhodes ◽  
Jane Juusola ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Neurodevelopmental Disorder ◽  
Autosomal Dominant Inheritance ◽  
Dominant Inheritance ◽  
Affected Parent

scholarly journals A rare case report of progressive symmetric erythrokeratoderma in five generations of an Indian family

2018 ◽  
Vol 4 (3) ◽  
pp. 444
Author(s):  
Anil Kumar Gupta ◽  
Kanishk Utkarsh Kaushik ◽  
Sushantika . ◽  
Shivangi Sachan
Keyword(s):  
Case Report ◽  
Broad Spectrum ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Autosomal Dominant Inheritance ◽  
Dominant Inheritance ◽  
Indian Family ◽  
Rare Case Report ◽  
Successive Generations ◽  
Rare Group

<p>Erythrokeratoderma is a rare group of disorders of autosomal dominant inheritance characterised by localised erythema and hyperkeratosis. Within a broad spectrum of phenotypes atleast two are delineated: a) Erythrokeratoderma variabilis and b) Progressive symmetric erythrokeratoderma. Here we are reporting a case of progressive symmetric erythrokeratoderma in an Indian family where five successive generations were involved.</p>

scholarly journals Multiple familial trichoepithelioma: A case report

2012 ◽  
Vol 6 (4) ◽  
pp. 64-68
Author(s):  
M Mathur ◽  
SK Kedia
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Autosomal Dominant Inheritance ◽  
Dominant Inheritance ◽  
Medical Sciences

Trichoepithelioma are benign epidermal appendageal tumour with follicular differentiation. Tumor has been categorized into solitary, multiple and desmoplastic types. The multiple familial trichoepithelioma is autosomal dominant inheritance and rarely seen. Journal of College of Medical Sciences-Nepal,2011,Vol-6,No-4, 64-68 DOI: http://dx.doi.org/10.3126/jcmsn.v6i4.6731

scholarly journals C.487C>T mutation in PAX4 gene causes MODY9 – a case report and literature review

2020 ◽  
Author(s):  
Di Zhang ◽  
Wenli Yang ◽  
Li Ren ◽  
yanmei sang
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Autosomal Dominant ◽  
Wide Spectrum ◽  
Monogenic Diabetes ◽  
Autosomal Dominant Inheritance ◽  
Maturity Onset Diabetes ◽  
Dominant Inheritance ◽  
Clinical Forms ◽  
Clinical Pictures

Maturity-onset diabetes of the young (MODY) is a group of monogenic diabetes characterized by an autosomal dominant inheritance. MODY is categorized by a large variety of clinical forms and is caused by a wide spectrum of mutations in MODY‑related genes that lead to different clinical pictures and require distinct treatment

scholarly journals Effective variant filtering and expected candidate variant yield in studies of rare human disease

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Brent S. Pedersen ◽  
Joe M. Brown ◽  
Harriet Dashnow ◽  
Amelia D. Wallace ◽  
Matt Velinder ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Rare Disease ◽  
Genome Sequencing ◽  
Autosomal Dominant ◽  
De Novo ◽  
Autosomal Dominant Inheritance ◽  
Compound Heterozygous ◽  
Whole Genome ◽  
Dominant Inheritance ◽  
Family Based

AbstractIn studies of families with rare disease, it is common to screen for de novo mutations, as well as recessive or dominant variants that explain the phenotype. However, the filtering strategies and software used to prioritize high-confidence variants vary from study to study. In an effort to establish recommendations for rare disease research, we explore effective guidelines for variant (SNP and INDEL) filtering and report the expected number of candidates for de novo dominant, recessive, and autosomal dominant modes of inheritance. We derived these guidelines using two large family-based cohorts that underwent whole-genome sequencing, as well as two family cohorts with whole-exome sequencing. The filters are applied to common attributes, including genotype-quality, sequencing depth, allele balance, and population allele frequency. The resulting guidelines yield ~10 candidate SNP and INDEL variants per exome, and 18 per genome for recessive and de novo dominant modes of inheritance, with substantially more candidates for autosomal dominant inheritance. For family-based, whole-genome sequencing studies, this number includes an average of three de novo, ten compound heterozygous, one autosomal recessive, four X-linked variants, and roughly 100 candidate variants following autosomal dominant inheritance. The slivar software we developed to establish and rapidly apply these filters to VCF files is available at https://github.com/brentp/slivar under an MIT license, and includes documentation and recommendations for best practices for rare disease analysis.

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.

Familial Spontaneous Pneumothorax

PEDIATRICS ◽  
1979 ◽  
Vol 64 (2) ◽  
pp. 172-175
Author(s):  
William G. Wilson ◽  
Arthur S. Aylsworth
Keyword(s):  
Statistical Analysis ◽  
Spontaneous Pneumothorax ◽  
Autosomal Dominant ◽  
Autosomal Dominant Inheritance ◽  
Familial Occurrence ◽  
Review Of The Literature ◽  
Dominant Inheritance ◽  
Pedigree Data ◽  
Fathers And Sons ◽  
Male To Female

A family is described in which four persons in three generations suffered spontaneous pneumothoraces: a newborn, an infant, an adolescent, and an adult. Review of the literature reveals 61 reports of familial spontaneous pneumothorax in 22 families. The ratio of male to female cases is approximately 1.8. Affected parents and affected children (including affected fathers and sons) are seen in ten families, while affected siblings with unaffected parents are noted in 13 families. Consanguinity has not been reported. Although autosomal dominant inheritance has been suggested as an explanation of familial spontaneous pneumothorax, available pedigree data are not adequate for statistical analysis. Physicians should be aware of the familial occurrence of spontaneous pneumothorax so that members of such families may be appropriately managed when problems arise.

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