Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

2019 ◽  
Vol 182 (3) ◽  
pp. 729-737 ◽  
Author(s):  
J.K. Simpson ◽  
M. Martinez‐Queipo ◽  
A. Onoufriadis ◽  
S. Tso ◽  
E. Glass ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Recessive Ichthyosis

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation

2013 ◽  
Vol 56 (11) ◽  
pp. 599-602 ◽  
Author(s):  
Rebecca Buchert ◽  
Steffen Uebe ◽  
Farah Radwan ◽  
Hasan Tawamie ◽  
Shaher Issa ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Recessive ◽  
Mitochondrial Gene ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Mutations in Fucosidosis Gene: a Review

1995 ◽  
Vol 44 (3-4) ◽  
pp. 223-232 ◽  
Author(s):  
G. Tiberio ◽  
M. Filocamo ◽  
R. Gatti ◽  
P. Durand
Keyword(s):  
Ethnic Groups ◽  
Genetic Heterogeneity ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Phenotype Correlation ◽  
Clinical Variability ◽  
Genotype Phenotype Correlation

AbstractFucosidosis is an autosomal recessive disorder caused by a deficiency of alpha-L-fucosidase. Up to now 79 cases have been described and several others identified but not yet published. The higher incidence of the disease is in Italy, where nearly 20 patients have been identified. Fourteen disease-causing mutations have been detected and four of them, Q422X, G60D, E375X, P141fs are present in more than 70% of the forty patients studied. In Italian patients, only seven mutations have been described and P141fs and G60D mutations are present in more than 50% of the cases. The P141fs mutation is absent in other ethnic groups. It has been impossible to establish genotype-phenotype correlation so far and the clinical variability of the disease cannot be explained only by genetic heterogeneity.

Genotype-phenotype correlation in some autosomal recessive hereditary spastic paraplegias

2004 ◽  
Vol 9 (2) ◽  
pp. 112-112
Author(s):  
F Manganelli ◽  
C Criscuolo ◽  
V Scarano ◽  
A Perretti ◽  
G De Michele ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Phenotype Correlation ◽  
Hereditary Spastic Paraplegias ◽  
Genotype Phenotype Correlation

scholarly journals Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Jing Zhang ◽  
Jing Guan ◽  
Hongyang Wang ◽  
Linwei Yin ◽  
Dayong Wang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Correlation Analysis ◽  
Autosomal Recessive ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Syndromic Hearing Loss

Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis

2016 ◽  
Vol 84 (1) ◽  
pp. e58-e59
Author(s):  
Kana Tanahashi ◽  
Kazumitsu Sugiura ◽  
Michihiro Kono ◽  
Hiromichi Takama ◽  
Nobuyuki Hamajima ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
High Carrier ◽  
Woolly Hair

Variable Genotype–Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene

2021 ◽  
Author(s):  
Itay Tokatly Latzer ◽  
Liora Sagi ◽  
Deeksha Sarihyan Bali ◽  
Catherine Rehder ◽  
Rotem Orbach ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Phenotypic Expression ◽  
Recessive Trait ◽  
Infantile Form ◽  
Phenotype Correlation ◽  
Pompe’S Disease ◽  
Genotype Phenotype Correlation ◽  
Pompe's Disease ◽  
Gaa Gene ◽  
Progressive Weakness

AbstractPompe's disease occurs due to an autosomal recessive trait resulting from numerous distinctive mutations in the GAA gene. It manifests as a broad spectrum of clinical phenotypes with progressive weakness that impairs motor and respiratory functions being common for all its forms. Cardiac hypertrophy is a prominent feature of its classic infantile form. To date, the pathogenic variant c.2015G > A (p.Arg672Gln) in exon 14 of the GAA gene has been described in 10 children of different ethnic groups, with variable phenotypic presentations. This work describes three children from two unrelated families of Arab ethnicity who presented with infantile-onset Pompe's disease as a result of a c.2015G > A (p.Arg672Gln) mutation. The clinical course of the children we report was more severe than previous reports. This further emphasizes the lack of a strict genotype–phenotype correlation in regard to the unique c.2015G > A (p.R672Q) mutation that causes Pompe's disease. This information contributes to the knowledge of the phenotypic expression of the specific mutation c.2015G > A (p.Arg672Gln) that causes Pompe's disease.

Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome

2017 ◽  
Vol 88 (2) ◽  
pp. 119-126
Author(s):  
Abdullah A. Al-Ashwal ◽  
Afaf Al-Sagheir ◽  
Khushnooda Ramzan ◽  
Mohammed Al-Owain ◽  
Rabab Allam ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Growth Hormone Receptor ◽  
Direct Sequencing ◽  
Receptor Gene ◽  
Genetic Diagnosis ◽  
Saudi Arabian ◽  
Large Cohort ◽  
Laron Syndrome ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Background/Aims: Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort. Subjects and Methods: A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene. Results: GHR mutations were identified in 34 patients from 22 separate nuclear families. All 34 molecularly confirmed patients had the typical clinical and endocrinological manifestations of LS. Eleven different mutations (9 previously unreported) were detected in this cohort of patients, all inherited in an autosomal recessive homozygous form. No genotype/phenotype correlation was apparent. Conclusion: The identification of pathogenic mutations causing LS will be of tremendous use for the molecular diagnosis of patients in Saudi Arabia and the region in general, with respect to prevention of this disease in the forms of future carrier testing, prenatal testing, premarital screening and preimplantation genetic diagnosis.

scholarly journals Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis

1998 ◽  
Vol 62 (5) ◽  
pp. 1052-1061 ◽  
Author(s):  
Hans Christian Hennies ◽  
Wolfgang Küster ◽  
Victor Wiebe ◽  
Alice Krebsová ◽  
André Reis
Keyword(s):  
Autosomal Recessive ◽  
Phenotype Correlation ◽  
Lamellar Ichthyosis ◽  
Genotype Phenotype Correlation

scholarly journals Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation

2022 ◽  
Vol 15 (1) ◽  
Author(s):  
Mariem Ennouri ◽  
Andreas D. Zimmer ◽  
Emna Bahloul ◽  
Rim Chaabouni ◽  
Slaheddine Marrakchi ◽  
...  
Keyword(s):  
Genetic Background ◽  
Autosomal Recessive ◽  
Phenotype Correlation ◽  
Genetic Investigation ◽  
Congenital Ichthyosis ◽  
Genotype Phenotype Correlation ◽  
Tunisian Patients ◽  
Autosomal Recessive Congenital Ichthyosis ◽  
Sporadic Cases ◽  
Ichthyosis Linearis Circumflexa

Abstract Background Ichthyosis is a heterogeneous group of Mendelian cornification disorders that includes syndromic and non-syndromic forms. Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (ILC) belong to non-syndromic forms. Syndromic ichthyosis is rather a large group of heterogeneous diseases. Overlapping phenotypes and genotypes between these disorders is a major characteristic. Therefore, determining the specific genetic background for each form would be necessary. Methods A total of 11 Tunisian patients with non-syndromic (8 with ARCI and 2 with ILC) and autosomal syndromic ichthyosis (1 patient) were screened by a custom Agilent HaloPlex multi-gene panel and the segregation of causative mutations were analyzed in available family members. Results Clinical and molecular characterization, leading to genotype–phenotype correlation in 11 Tunisian patients was carried out. Overall, we identified 8 mutations in 5 genes. Thus, in patients with ARCI, we identified a novel (c.118T > C in NIPAL4) and 4 already reported mutations (c.534A > C in NIPAL4; c.788G > A and c.1042C > T in TGM1 and c.844C > T in CYP4F22). Yellowish severe keratoderma was found to be associated with NIPAL4 variations and brachydactyly to TGM1 mutations. Two novel variations (c.5898G > C and c.2855A > G in ABCA12) seemed to be features of ILC. Delexon13 in CERS3 was reported in a patient with syndromic ichthyosis. Conclusions Our study further extends the spectrum of mutations involved in ichthyosis as well as clinical features that could help directing genetic investigation.

A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation

2013 ◽  
Author(s):  
Ponti Emanuela ◽  
Mihalich Alessandra ◽  
Broggi Francesca ◽  
Maria Di Blasio Anna ◽  
Luisa Bianchi Maria
Keyword(s):  
Osteogenesis Imperfecta ◽  
Familial Case ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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