Discordant Genotype-Phenotype Correlation in Familial Hyperaldosteronism Type III with KCNJ5 Gene Mutation: A Patient Report and Review of the Literature

2014 ◽  
Vol 82 (2) ◽  
pp. 138-142 ◽  
Author(s):  
Masanori Adachi ◽  
Koji Muroya ◽  
Yumi Asakura ◽  
Kenji Sugiyama ◽  
Keiko Homma ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Review Of The Literature ◽  
Patient Report ◽  
Phenotype Correlation ◽  
Type Iii ◽  
Genotype Phenotype Correlation ◽  
Familial Hyperaldosteronism ◽  
Discordant Genotype

Ulerythema Ophryogenes, A Rarely Reported Cutaneous Manifestation of Noonan Syndrome: Case Report and Review of the Literature

2013 ◽  
Vol 17 (3) ◽  
pp. 212-218 ◽  
Author(s):  
Kayi Li ◽  
Mary Ann Thomas ◽  
Richard M. Haber
Keyword(s):  
Case Report ◽  
Noonan Syndrome ◽  
Cutaneous Manifestation ◽  
Review Of The Literature ◽  
Phenotype Correlation ◽  
Genetic Condition ◽  
Genotype Phenotype Correlation

Background: Ulerythema ophryogenes (also known as keratosis pilaris atrophicans faciei) is a rarely reported cutaneous manifestation of Noonan syndrome. Objective: Recognizing ulerythema ophryogenes as a cutaneous association in Noonan syndrome may aid in the diagnosis of this relatively common genetic condition. Methods: We present a case of a patient with Noonan syndrome and ulerythema ophryogenes associated with a SOS1 mutation and review the literature on this association. Results: To the best of our knowledge, this is the second case of Noonan syndrome proven to be due to an SOS1 mutation in which ulerythema ophryogenes was clinically recognized and specifically diagnosed. Conclusions: The presence of ulerythema ophryogenes in a patient with Noonan syndrome increases the likelihood of a SOS1 mutation. Further reports by dermatologists and medical geneticists documenting ulerythema ophryogenes and not just descriptions of sparse or absent eyebrows will help support this genotype-phenotype correlation.

Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation

2019 ◽  
Vol 34 (14) ◽  
pp. 937-943
Author(s):  
Licia Lugli ◽  
Maria Carolina Bariola ◽  
Luca Ori ◽  
Laura Lucaccioni ◽  
Alberto Berardi ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Gene Mutation ◽  
Pyridoxal Phosphate ◽  
Review Of The Literature ◽  
Phenotype Correlation ◽  
Oxidase Deficiency ◽  
Neurodevelopmental Disabilities ◽  
Neonatal Onset ◽  
Number Of Patients ◽  
Electroencephalogram Eeg

In recent years, the clinical spectrum of pyridoxine phosphate oxidase (PNPO) deficiency has broadened. There are a growing number of patients with a transient or lasting response to pyridoxine in addition to cases that respond more traditionally to pyridoxal-phosphate. However, among pyridoxine-responsive patients with PNPO gene mutation, there are only a few reports on electroencephalogram (EEG) ictal/interictal patterns, and data regarding the outcomes are inconsistent. We describe a case of neonatal onset epilepsy with missense mutation c(674G>A) p(R225 H) in PNPO gene and pyridoxine responsiveness. Comparing this patient with 24 cases of previously described pyridoxine-responsive pyridoxine phosphate oxidase deficiency epilepsy, we found that patients carrying the missense mutation c(674G>A) p(R225 H) of the PNPO gene might have a more severe epileptic phenotype, possibly because of their lower residual PNPO activity. Indeed, pyridoxine-responsive pyridoxine phosphate oxidase deficiency epilepsy remains a challenge, with neurodevelopmental disabilities occurring in about half of the cases.

Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature

2015 ◽  
Vol 170 (3) ◽  
pp. 766-772 ◽  
Author(s):  
Marshall I. B. Fontes ◽  
Ana P. Santos ◽  
Miriam C. Molck ◽  
Milena Simioni ◽  
Diogo L. L. Nascimento ◽  
...  
Keyword(s):  
Natural History ◽  
Review Of The Literature ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
History Of

The Coexistence of a Novel Inactivating Thyrotropin Receptor Gene Mutation with Two Thyroid Peroxidase Mutations: A Genotype-Phenotype Correlation

2011 ◽  
pp. P3-609-P3-609
Author(s):  
Chutintorn Sriphrapradang ◽  
Yardena Tenenbaum-Rakover ◽  
Mia Weiss ◽  
Marla S Barkoff ◽  
Osnat Admoni ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Receptor Gene ◽  
Thyroid Peroxidase ◽  
Thyrotropin Receptor ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Haitian Nan ◽  
Hiroshi Shiraku ◽  
Tomoko Mizuno ◽  
Yoshihisa Takiyama
Keyword(s):  
Japanese Patient ◽  
De Novo ◽  
Complex Form ◽  
Review Of The Literature ◽  
Spastic Paraplegia ◽  
Phenotype Correlation ◽  
Spastic Paralysis ◽  
Hereditary Spastic Paraplegias ◽  
Genotype Phenotype Correlation ◽  
Complicated Form

Abstract Background Spastic paraplegia type 4 (SPG4) is caused by mutations in the SPAST gene, is the most common form of autosomal-dominant pure hereditary spastic paraplegias (HSP), and is rarely associated with a complicated form that includes ataxia, epilepsy, and cognitive decline. To date, the genotype-phenotype correlation has not been substantially established for SPAST mutations. Case presentation We present a Japanese patient with infantile-onset HSP and a complex form with coexisting ataxia and epilepsy. The sequencing of SPAST revealed a de novo c.1496G > A (p.R499H) mutation. A review of the literature revealed 16 additional patients with p.R499H mutations in SPAST associated with an early-onset complicated form of HSP. We found that the complicated phenotype of patients with p.Arg499His mutations could be mainly divided into three subgroups: (1) infantile-onset ascending hereditary spastic paralysis, (2) HSP with severe dystonia, and (3) HSP with cognitive impairment. Moreover, the c.1496G > A mutation in SPAST may occur as a de novo variant at noticeably high rates. Conclusion We reviewed the clinical features of the patients reported in the literature with the p.Arg499His mutation in SPAST and described the case of a Japanese patient with this mutation presenting a new complicated form. Accumulating evidence suggests a possible association between infantile-onset complicated HSP and the p.Arg499His mutation in SPAST. The findings of this study may expand the clinical spectrum of the p.Arg499His mutation in SPAST and provide an opportunity to further study the genotype-phenotype correlation of SPG4.

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