A new mutation in GFAP widens the spectrum of Alexander disease

Abstract PRUNE1-related disorders manifest as severe neurodevelopmental conditions associated with neurodegeneration, implying a differential diagnosis at birth with static encephalopathies, and later with those manifesting progressive brain damage with the involvement of both the central and the peripheral nervous system.Here we report on another patient with PRUNE1 (p.Asp106Asn) recurrent mutation, whose leukodystrophy, inferior olives hyperintensity, and macrocephaly led to the misleading clinical suspicion of Alexander disease. Clinical features, together with other recent descriptions, suggest avoiding the term “microcephaly” in defining this disorder that could be renamed “neurodevelopmental disorder with progressive encephalopathy, hypotonia, and variable brain anomalies” (NPEHBA).

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A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

Journal of Pediatric Genetics ◽

10.1055/s-0040-1719161 ◽

2020 ◽

Author(s):

Hasan Akduman ◽

Dilek Dilli ◽

Serdar Ceylaner

Keyword(s):

Mutation Analysis ◽

Autosomal Recessive ◽

Glucose Transporter ◽

Neonatal Period ◽

Autosomal Recessive Disorder ◽

Homozygous Mutation ◽

New Mutation ◽

Early Neonatal Period ◽

Sodium Dependent ◽

Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

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Computer modeling of the 3D structure of human cytochrome P450c21 in a young woman with late-onset AGS and a new mutation within the steroid-21-hydroxylase gene

Experimental and Clinical Endocrinology & Diabetes ◽

10.1055/s-2005-862870 ◽

2005 ◽

Vol 113 (S 1) ◽

Author(s):

J Bojunga ◽

C Welsch ◽

M Albrecht ◽

I Antes ◽

T Lengauer ◽

...

Keyword(s):

Computer Modeling ◽

Young Woman ◽

Late Onset ◽

3D Structure ◽

New Mutation ◽

Hydroxylase Gene ◽

Human Cytochrome

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Does a new mutation always predict a new disease? Lessons from p27 mutations

Endocrine Abstracts ◽

10.1530/endoabs.32.s31.1 ◽

2013 ◽

Author(s):

Natalia Pellegata

Keyword(s):

New Disease ◽

New Mutation

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Syndrome carney-stratakis, new mutation report: SDH B: D138Y (c.412>T)

Endocrine Abstracts ◽

10.1530/endoabs.56.p108 ◽

2018 ◽

Author(s):

Ana Ruiz Serrano ◽

Alessandra Gabillo Ciccia ◽

Francisca Martinez Maduena ◽

Salome Martinez Gonzalez ◽

Josep Oriola Ambros ◽

...

Keyword(s):

New Mutation

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Clinical evaluation and genetic analysis of patients affected by premature ovarian insufficiency: Identification and characterization of a new mutation of the BMP-15

Endocrine Abstracts ◽

10.1530/endoabs.70.aep790 ◽

2020 ◽

Author(s):

Francesca Orsolini ◽

Eleonora Ferrarini ◽

Patrizia Agretti ◽

Marco Giuseppina De ◽

Cosmo Caterina Di ◽

...

Keyword(s):

Genetic Analysis ◽

Clinical Evaluation ◽

Premature Ovarian Insufficiency ◽

Ovarian Insufficiency ◽

New Mutation ◽

Identification And Characterization

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A NEW MUTATION IN A SPLICE SITE OF ADA DETERMINING SCID PHENOTYPE

10.26226/morressier.57bc1758d462b80290b4d3dd ◽

2016 ◽

Author(s):

Azucena Gonzalez Navarro

Keyword(s):

Splice Site ◽

New Mutation

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Factor X Deficiency Due to a Compound Heterozygosis Between a New Mutation (Gla72Asp) in Exon 2 and an Already Known one (Gly154Arg) in Exon 5: Factor X Mar Del Plata1)

Cardiovascular & Haematological Disorders - Drug Targets ◽

10.2174/1871529x19666181212103944 ◽

2019 ◽

Vol 19 (2) ◽

pp. 169-173

Author(s):

Antonio Girolami ◽

Diana Noemi Garcia de Paoletti ◽

Marcelo Leonardo Nenkies ◽

Silvia Ferrari ◽

Hugo Guglielmone

Keyword(s):

Bleeding Tendency ◽

Bleeding Disorders ◽

Factor X ◽

Substitution Therapy ◽

New Mutation ◽

Exon 2 ◽

The Third ◽

The Past ◽

Factor X Deficiency ◽

The Family

Background: Investigation of rare bleeding disorders in Latin-America. Objective: The report of a new case of FX deficiency due to a compound heterozygosis. Methods: Accepted clotting procedures were used. Sequencing of DNA was carried out by means of Applied Biosystems Instruments. Results: A compound heterozygote due to the association of a new mutation (Gla72Asp) with an already known mutation (Gly154Arg) of the FX gene is reported. The proposita is a 38 year old female who had a moderate bleeding tendency (menorrhagia, epistaxis, easy bruising). The proposita has never received substitution therapy but in the occasion of a uterine biopsy. The mother was asymptomatic but was a heterozygote for the new mutation. The father was asymptomatic but had deserted the family and could not be investigated. After this abandonment the mother of the proposita re-married with an asymptomatic man and she gave birth to a son who was asymptomatic but was also heterozygous for the new mutation (Gla72Asp). As a consequence it has to be assumed that the first husband of the mother of the proposita was heterozygous for the known mutation (Gly154Arg). Conclusion: This is the third case of a new mutation in the FX gene reported, during the past few years, in Argentina.

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