Compound heterozygous p. Arg949Trp and p. Gly970Ala mutations deteriorated the function of PEX1p: A study on PEX1 in a patient with Zellweger syndrome

2021 ◽  
Author(s):  
Marzieh Alamatsaz ◽  
Farzaneh Jalalypour ◽  
Motahare‐Sadat Hashemi ◽  
Yousef Shafeghati ◽  
Mohammad Hossein Nasr‐Esfahani ◽  
...  
Keyword(s):  
Zellweger Syndrome ◽  
Compound Heterozygous

Severe cystic fibrosis associated with a DeltaF508/R347H+D979A compound heterozygous genotype

1998 ◽  
Vol 53 (1) ◽  
pp. 50-53 ◽  
Author(s):  
Satoko Hojo ◽  
Jiro Fujita ◽  
Hiroshi Miyawaki ◽  
Yuka Obayashi ◽  
Jiro Takahara ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Compound Heterozygous ◽  
Heterozygous Genotype

Isolated Familial Plasminogen Deficiency May not Be a Risk Factor for Thrombosis

1996 ◽  
Vol 76 (06) ◽  
pp. 1004-1008 ◽  
Author(s):  
R C Tait ◽  
Isobel D Walker ◽  
J A Conkie ◽  
S I A M Islam ◽  
Frances McCall
Keyword(s):  
Risk Factor ◽  
Prevalence Rate ◽  
Blood Donors ◽  
Compound Heterozygous ◽  
Thrombotic Risk ◽  
Deficiency State ◽  
Thrombotic Risk Factor ◽  
Plasminogen Deficiency ◽  
Old Donor ◽  
Heterozygous Deficiency

SummaryDespite many reports of individuals with congenital plasminogen deficiency and thrombosis, there is still uncertainty whether heterozygous deficiency represents a real thrombophilic risk factor or simply a coincidental finding. We have addressed this issue by testing for plasminogen deficiency in a cohort of 9611 blood donors. Out of 66 donors with reduced plasminogen activity on two occasions 28 were shown to have a familial deficiency state (including 3 with dysplasminogen-aemia). Our observed prevalence rate for familial plasminogen deficiency, calculated at 2.9/1000 (95% Cl = 1.9-4.2 per 1000), was not significantly different from that calculated from published reports of congenital plasminogen deficiency in thrombotic cohorts (5.4/1000). Furthermore, with only two exceptions, all 80 donors and relatives with familial deficiency were asymptomatic with regard to thrombosis -including a 29 year old donor with suspected compound heterozygous hypoplasminogenaemia. These findings add further weight to the argument that familial heterozygous plasminogen deficiency, at least in isolation, does not constitute a significant thrombotic risk factor. However, it remains uncertain whether plasminogen deficiency, when combined with other thrombophilic conditions, may become more clinically important.

Prenatal Diagnosis of Compound Heterozygous Deficiency of Protein C by Direct Detection of the Mutation Sites

1996 ◽  
Vol 76 (02) ◽  
pp. 277-278 ◽  
Author(s):  
Masaru Ido ◽  
Tatsuya Hayashi ◽  
Junji Nishioka ◽  
Masazumi Itoh ◽  
Hiroyuki Minoura ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Protein C ◽  
Direct Detection ◽  
Compound Heterozygous ◽  
Heterozygous Deficiency

Anti-Myelin Oligodendrocyte Glycoprotein Encephalomyelitis and Extensive Longitudinal Transverse Myelitis Associated with Compound Heterozygous NLRP3 Missense Mutations in a Young Child

2020 ◽  
Author(s):  
Deirdre O'Sullivan ◽  
Michael Moore ◽  
Susan Byrne ◽  
Andreas O. Reiff ◽  
Susanna Felsenstein
Keyword(s):  
Young Child ◽  
Genetic Basis ◽  
Transverse Myelitis ◽  
Acute Disseminated Encephalomyelitis ◽  
Myelin Oligodendrocyte Glycoprotein ◽  
Compound Heterozygous ◽  
Missense Mutations ◽  
Childhood Onset

AbstractAcute disseminated encephalomyelitis in association with extensive longitudinal transverse myelitis is reported in a young child with positive anti-myelin oligodendrocyte glycoprotein (MOG) antibody with heterozygous NLRP3 missense mutations; p.(Arg488Lys) and p.(Ser159Ile). This case may well present an exceptional coincidence, but may describe a yet unrecognized feature of the spectrum of childhood onset cryopyrinopathies that contribute to the understanding of the genetic basis for anti-MOG antibody positive encephalomyelitis. Based on this observation, a larger scale study investigating the role of NLRP3 and other inflammasomes in this entity would provide important pathophysiological insights and potentially novel avenues for treatment.

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