Novel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis: a case report and review of the literature

Article Pediatrics

Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia)

Joanna Ryzko et al.

Summary: Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a rare genetic disorder characterized by congenital craniofacial, skeletal, and ectodermal defects, as well as kidney and liver insufficiency. We present a case report of sequential liver-after-kidney transplantation in a patient with CED. Multidisciplinary medical management and regular follow-up by hepatologists and nephrologists are crucial for these patients, as liver and kidney diseases are the leading causes of morbidity and mortality.

FRONTIERS IN PEDIATRICS (2022)

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Article Genetics & Heredity

Atypical phenotype of a patient with Bardet-Biedl syndrome type 4

Natacha Sloboda et al.

Summary: A rare case of Bardet-Biedl syndrome (BBS) with polydactyly, renal abnormalities, anal imperforation, and complex genital malformations is reported. Through karyotyping and exome sequencing, a pathogenic variant in the BBS4 gene was identified as the genetic cause for the patient's symptoms.

MOLECULAR GENETICS & GENOMIC MEDICINE (2022)

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Article Genetics & Heredity

WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy

Joanna Walczak-Sztulpa et al.

Summary: Cranioectodermal dysplasia (CED) is a rare condition associated with various symptoms and complications such as craniosynostosis, retinal degeneration, and limb abnormalities. A study found that defects in the WDR35 gene may increase the risk of early-onset retinal degeneration in CED patients. Therefore, it is recommended that CED patients with pathogenic variations in the WDR35 gene undergo ophthalmologic evaluation before the age of 4 to detect early signs of retinal degeneration.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2022)

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Review Urology & Nephrology

Ciliopathies and the Kidney: A Review

Dominique J. McConnachie et al.

Summary: Primary cilia are sensory organelles protruding from the apical surface of most cell types, playing important roles in tissue development and signal transduction. Mutations in ciliary-associated proteins result in a group of diseases, with renal ciliopathies being a main focus characterized by kidney cysts due to dysregulated ciliary-dependent signaling. Cystic-associated kidney damage and systemic inflammation lead to kidney failure in these diseases, with no curative pharmacologic treatments currently available.

AMERICAN JOURNAL OF KIDNEY DISEASES (2021)

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Article Clinical Neurology

Sensenbrenner syndrome: a further challenge in evaluating sagittal synostosis and a need for a multidisciplinary approach

Thomas Quinaux et al.

Summary: Sensenbrenner syndrome, a rare genetic disorder, presents with various dysmorphic features including dolichocephaly, chronic kidney disease, hepatic fibrosis, retinitis pigmentosa, and brain abnormalities. A multidisciplinary approach in diagnosis and follow-up is crucial for early identification and management of syndromic forms.

CHILDS NERVOUS SYSTEM (2021)

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Article Biochemistry & Molecular Biology

WDR35 is involved in subcellular localization of acetylated tubulin in 293T cells

Takeshi Sekiguchi et al.

Summary: WDR35 interacts with TCP1/CCT1 to facilitate alpha-tubulin folding and affects the subcellular localization of acetylated tubulin in primary cilia. The interaction between RagA and WDR35 negatively regulates primary cilium formation.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2021)

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Article Genetics & Heredity

Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings

Miroslava Brndiarova et al.

Summary: Sensenbrenner syndrome is a rare autosomal recessive disorder caused by gene variants affecting primary cilia development. Clinical manifestations include craniofacial and skeletal abnormalities, and chronic kidney disease. This study reports siblings with severe anorexia, failure to thrive, chronic kidney disease, and angel-shaped middle phalanges, with identified variants in the WDR35 gene. Angel-shaped middle phalanges, without the GDF5 variant, may represent a phenotypic overlap of ciliopathy.

MOLECULAR SYNDROMOLOGY (2021)

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Article Genetics & Heredity