scholarly journals A New Spin on Digenic Inheritance: Retrotransposition in Rotor Syndrome

2015 ◽  
Vol 36 (3) ◽  
pp. v-v
Author(s):  
Haig H. Kazazian
Keyword(s):  
Digenic Inheritance ◽  
Rotor Syndrome

Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population

2021 ◽  
Author(s):  
Young-gon Kim ◽  
Hobin Sung ◽  
Ho Seob Shin ◽  
Man Jin Kim ◽  
Jee-Soo Lee ◽  
...  
Keyword(s):  
East Asian ◽  
Asian Population ◽  
East Asian Population ◽  
Rotor Syndrome

scholarly journals Genetic Causes of Oculocutaneous Albinism in Pakistani Population

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 492
Author(s):  
Zureesha Sajid ◽  
Sairah Yousaf ◽  
Yar M. Waryah ◽  
Tauqeer A. Mughal ◽  
Tasleem Kausar ◽  
...  
Keyword(s):  
Genetic Interaction ◽  
Genetic Diagnosis ◽  
Underlying Disease ◽  
Oculocutaneous Albinism ◽  
Disease Etiology ◽  
Locus Heterogeneity ◽  
Pathogenic Variants ◽  
Digenic Inheritance ◽  
Inbred Populations ◽  
Pathological Variant

Melanin pigment helps protect our body from broad wavelength solar radiation and skin cancer. Among other pigmentation disorders in humans, albinism is reported to manifest in both syndromic and nonsyndromic forms as well as with varying inheritance patterns. Oculocutaneous albinism (OCA), an autosomal recessive nonsyndromic form of albinism, presents as partial to complete loss of melanin in the skin, hair, and iris. OCA has been known to be caused by pathogenic variants in seven different genes, so far, according to all the currently published population studies. However, the detection rate of alleles causing OCA varies from 50% to 90%. One of the significant challenges of uncovering the pathological variant underlying disease etiology is inter- and intra-familial locus heterogeneity. This problem is especially pertinent in highly inbred populations. As examples of such familial locus heterogeneity, we present nine consanguineous Pakistani families with segregating OCA due to variants in one or two different known albinism-associated genes. All of the identified variants are predicted to be pathogenic, which was corroborated by several in silico algorithms and association with diverse clinical phenotypes. We report an individual affected with OCA carries heterozygous, likely pathogenic variants in TYR and OCA2, raising the question of a possible digenic inheritance. Altogether, our study highlights the significance of exome sequencing for the complete genetic diagnosis of inbred families and provides the ramifications of potential genetic interaction and digenic inheritance of variants in the TYR and OCA2 genes.

Digenic inheritance of severe insulin resistance in a human pedigree

10.1038/ng926 ◽  
2002 ◽  
Vol 31 (4) ◽  
pp. 379-384 ◽  
Author(s):  
David B. Savage ◽  
Maura Agostini ◽  
Inês Barroso ◽  
Mark Gurnell ◽  
Jian'an Luan ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Severe Insulin Resistance ◽  
Digenic Inheritance

scholarly journals Management of a patient with colon cancer and rotor syndrome: A case report

2013 ◽  
Vol 7 (3) ◽  
pp. 797-798
Author(s):  
DENIZ ARSLAN ◽  
FATMA AVCI ◽  
ALPARSLAN MERDIN ◽  
SEYDA GUNDUZ ◽  
HASAN SENOL COSKUN
Keyword(s):  
Colon Cancer ◽  
Case Report ◽  
Rotor Syndrome

Rotor Syndrome

2009 ◽  
pp. 1872-1873
Author(s):  
Christian G. Bien ◽  
Christian E. Elger ◽  
Ali R. Afzal ◽  
Sirajedin Natah ◽  
Ritva Häyrinen-Immonen ◽  
...  
Keyword(s):  
Rotor Syndrome
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