We report a female infant with the Majewski syndrome, one of a group of conditions characterised by short ribs, polydactyly, dwarfism, and early neonatal death. This syndrome seems to be extremely rare, with only five well documented cases reported and, including this case, nine recorded in all. The Majewski syndrome is considered to be recessively inherited, and this report adds further support to this hypothesis, as the infant was born to consanguineous parents.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1048846 | PMC |
| http://dx.doi.org/10.1136/jmg.19.2.141 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.
Hum Mol Genet
December 2024
Department of Human Genetics, McGill University, 3640 rue University, Montreal, QC, H3A 0C7, Canada.
Background: Primary ciliopathies are a heterogeneous group of rare disorders predominantly caused by autosomal-recessive genetic variants that disrupt non-motile ciliary function. They often manifest as a syndromic phenotype, frequently involving the kidney. Biallelic pathogenic variants in C2CD3 disrupt ciliogenesis and Sonic Hedgehog (SHH) signaling, resulting in a severe ciliopathy (Orofaciodigital syndrome XIV, OMIM 615948).
View Article and Find Full Text PDFCompound Heterozygous Variants in the Gene Associated with Skeletal Ciliopathies.
Diagnostics (Basel)
November 2024
Laboratorio di Genetica Umana, Altamedica, Viale Liegi 45, 00198 Rome, Italy.
Ciliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and primarily affects skeletal development. This group includes several syndromes with overlapping but distinct clinical features, such as short-rib polydactyly syndrome (SRPS), Jeune asphyxiating thoracic dystrophy (JATD), Mainzer-Saldino syndrome (MZSDS), and cranioectodermal dysplasia (CED), also called Sensenbrenner syndrome.
View Article and Find Full Text PDFDYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.
Ann Hum Genet
January 2025
Genetics Service, São João Universitary Hospital Center, Porto, Portugal.
Article Synopsis
- The DYNC2H1 gene is linked to short-rib polydactyly syndrome (SRPS) and other skeletal ciliopathies, with two unique cases highlighting distinct phenotypes caused by splicing variants.
- The first case involved a 14-week-old fetus with severe malformations and two compound heterozygous variants that were initially uncertain but later deemed likely pathogenic after further testing.
- The second case presented an 11-year-old boy with various physical abnormalities and identified variants in DYNC2H1, underscoring the gene's role in conditions like SRPS and orofaciodigital syndrome, enhancing understanding of splicing variants' impacts.
Etiology of craniofacial and cardiac malformations in a mouse model of -related syndromes.
Proc Natl Acad Sci U S A
September 2024
Department of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada.
Article Synopsis
- * Mutant mouse models with SF3B4 deletion in neural crest cells demonstrated similar abnormalities, with variations in severity that depended on neighboring non-neural crest cell factors.
- * RNA sequencing revealed significant expression changes in genes regulating neural crest cell functions and increased exon skipping, suggesting that reduced SF3B4 impacts splicing and expression of crucial transcripts, resulting in developmental defects.
Molecular insights into human phosphatidylserine synthase 1 reveal its inhibition promotes LDL uptake.
Cell
October 2024
Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Biophysics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address:
In mammalian cells, two phosphatidylserine (PS) synthases drive PS synthesis. Gain-of-function mutations in the Ptdss1 gene lead to heightened PS production, causing Lenz-Majewski syndrome (LMS). Recently, pharmacological inhibition of PSS1 has been shown to suppress tumorigenesis.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!