Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation

Article Dermatology

Interpretation of genomic sequence variants in heritable skin diseases: A primer for clinicians

Jouni Uitto et al.

Summary: This article highlights the importance of mutation detection strategies and interpretation of genetic information in the diagnosis and management of heritable skin diseases.

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2023)

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Review Endocrinology & Metabolism

Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies*

Jan M. Friedman et al.

Summary: Cerebral palsy (CP) is a debilitating condition characterized by abnormal movement or posture that starts early in development. Genetic factors play a significant role in the etiology of CP, with most cases being caused by de novo mutations. Copy number variants and small alterations of nucleotide sequence contribute to CP, and the rate of pathogenic genomic lesions is higher in atypical CP cases. Mutations at various genetic loci can lead to CP-like symptoms. Genetic counseling and precise therapies can be facilitated by identifying the specific cause of CP.

MOLECULAR GENETICS AND METABOLISM (2022)

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Article Immunology

Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine

Paul Bastard et al.

Summary: In rare cases, yellow fever virus (YFV) live attenuated vaccine can cause life-threatening disease, particularly in patients with no history of severe viral illness. Some patients with auto-Abs against multiple type I interferons and autosomal recessive IFNAR1 or IFNAR2 deficiency were found to be at risk of developing severe complications after YFV vaccination. Testing for these predispositions could be considered for healthy individuals before YFV vaccination.

JOURNAL OF EXPERIMENTAL MEDICINE (2021)

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Letter Immunology

Interferon-β Therapy in a Patient with Incontinentia Pigmenti and Autoantibodies against Type I IFNs Infected with SARS-CoV-2

Paul Bastard et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2021)

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Article Genetics & Heredity

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Henrik Stranneheim et al.

Summary: The study reports findings from whole genome sequencing of 4437 individuals at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015, leading to molecular diagnoses for a portion of patients. Information sharing between teams was beneficial in clinical practice. Additionally, research resulted in the discovery of 17 new disease-causing genes.

GENOME MEDICINE (2021)

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Review Biochemistry & Molecular Biology

Glucocerebrosidase dysfunction in neurodegenerative disease

Sarah M. Brooker et al.

Summary: The GBA1 gene encoding the lysosomal hydrolase GCase is the most common genetic risk factor for PD, with multifactorial effects on neurons and loss of GCase enzymatic activity. Alterations in GCase activity are linked to various pathways involved in neurodegeneration, making it a promising target for therapeutic drug development in PD and related neurodegenerative disorders.

MOLECULAR MECHANISMS OF NEURODEGENERATION (2021)

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Article Biochemistry & Molecular Biology

Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test

Stefania Zampieri et al.

Summary: The study highlights the importance of a comprehensive molecular strategy for proper GBA genotyping and genetic counseling in patients with Gaucher disease, as CES may not detect all possible mutations and recombinations. Additional techniques like MLPA and specific long-range PCR are essential to identify novel mutations and avoid mis-genotyping.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Article Immunology

Autoantibodies neutralizing type I IFNs are present in ∼4% of uninfected individuals over 70 years old and account for ∼20% of COVID-19 deaths

Paul Bastard et al.

Summary: Autoantibodies neutralizing interferons are present in a significant percentage of critical COVID-19 patients, especially in older individuals, and their prevalence increases with age.

SCIENCE IMMUNOLOGY (2021)

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Article Biochemistry & Molecular Biology