Bioinformatic parallel processing tools development for mutation identification from whole exome data following homozygosity mapping for autosomal recessive disorders

2012 ◽  
pp. BMP91
Author(s):  
Yasser Al-Sarraj ◽  
Adel Abouzehry ◽  
Hatem El-Shanti ◽  
Marios Kambouris
Keyword(s):  
Parallel Processing ◽  
Autosomal Recessive ◽  
Homozygosity Mapping ◽  
Autosomal Recessive Disorders ◽  
Exome Data ◽  
Whole Exome ◽  
Recessive Disorders ◽  
Mutation Identification

Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family

2015 ◽  
Vol 172 (5) ◽  
pp. 1407-1411 ◽  
Author(s):  
T. Takeichi ◽  
A. Nanda ◽  
S. Aristodemou ◽  
J.R. McMillan ◽  
J. Lee ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorders ◽  
Whole Exome ◽  
Recessive Disorders

Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family

2016 ◽  
Vol 84 (1) ◽  
pp. e139
Author(s):  
Takuya Takeichi ◽  
Arti Nanda ◽  
Masashi Akiyama ◽  
Hejab Al-Ajmi ◽  
John_A. McGrath
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorders ◽  
Whole Exome ◽  
Recessive Disorders

scholarly journals Consanguineous marriages in Finland and their implication for genetic disease

1995 ◽  
pp. 45-53
Author(s):  
Jaakko Ignatius
Keyword(s):  
Rural Areas ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Genetic Diseases ◽  
Finnish Population ◽  
Autosomal Recessive Disorders ◽  
Consanguineous Marriages ◽  
The Mean ◽  
Autosomal Recessive Diseases ◽  
Recessive Disorders

The frequency of marriages contracted between individuals with close consanguinity has traditionally been low in Finland. In the 19th and early 20th centuries only 0.1-0.3% of all marriages were contracted between first-cousins (average kinship coefficient 0.0001-0.0002). In genealogical search, however, a remote consanguinity (often beyond 3rd cousins) is frequently found especially in the rural areas and the true level of inbreeding is higher. In Finland, several autosomal recessive diseases are known to be enriched in the population. This unique spectrum of genetic diseases is sometimes called »the Finnish Disease Heritage». To study the implication of close consanguinity for these disorders, information on consanguineous marriages closer than second-cousins was collected from 808 families representing 24 different »Finnish» autosomal recessive disorders. The mean rate of first-cousin marriages was 1.6% (0-20%). Consanguinity (parents second-cousins or closer) was found in 4.2% of the families. For comparison, in 160 families representing three »non-Finnish» autosomal disorders the corresponding figures were 1.9% and 2.5%, respectively. Although these figures are high when compared to the general Finnish population, it can be concluded that close consanguinity is not a significant factor of Finnish genetic diseases.

Mendelian disorders causing hypertension

2010 ◽  
pp. 3071-3073
Author(s):  
Nilesh J. Samani ◽  
Maciej Tomaszewski
Keyword(s):  
Family History ◽  
Autosomal Recessive ◽  
Molecular Level ◽  
Age Of Onset ◽  
Severe Hypertension ◽  
Strong Family History ◽  
Autosomal Recessive Disorders ◽  
Mendelian Disorders ◽  
Recessive Disorders ◽  
Electrolyte Abnormalities

Several mendelian disorders with hypertension as the predominant manifestation have been characterized at the molecular level. Features that may suggest one of these very rare conditions include a young age of onset, moderate to severe hypertension, strong family history, consanguinity (for the autosomal recessive disorders), and electrolyte abnormalities, particularly of potassium (although this is not invariable)....

scholarly journals A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature

2020 ◽  
Author(s):  
Maria Laura Iezzi ◽  
Gaia Varriale ◽  
Luca Zagaroli ◽  
Stefania Lasorella ◽  
Marco Greco ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Autosomal Recessive ◽  
Homozygous Mutation ◽  
Adrenal Hyperplasia ◽  
Phenotype Correlation ◽  
Hydroxylase Deficiency ◽  
Autosomal Recessive Disorders ◽  
Salt Wasting ◽  
21 Hydroxylase Deficiency ◽  
Recessive Disorders

AbstractCongenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency represents a group of autosomal recessive disorders characterized by impaired cortisol production due to altered upstream steroid conversions, subclassified as classic and nonclassic forms. The genotype–phenotype correlation is possible in the most frequent case but not in all. Despite in literature many mutations are known, there is the possibility of finding a new genetic pattern in patients with CAH.

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