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Expanding the Genotypic and Phenotypic Spectrum of -Related Conditions: Three More Cases.
Genes (Basel)
December 2024
Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Introduction: Pathogenic variants in the gene are linked to a spectrum of syndromes that exhibit partial clinical overlap. Hemizygous loss-of-function variants are considered lethal in males, while heterozygous loss-of-function variants generally result in oro-facial-digital syndrome type 1. A reported phenotype, Simpson-Golabi-Behmel syndrome type 2, was published once but remains controversial, with many specialists questioning its validity and arguing about its continued listing in the OMIM database.
View Article and Find Full Text PDFUse 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 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.
Expanding the Phenotypic Spectrum of Pathogenic Variants: From Joubert Syndrome to Hydrolethalus Syndrome.
Int J Mol Sci
July 2024
Departamento de Ciências Básicas da Saúde, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre 90050-170, Brazil.
variants have been associated with a wide range of ciliopathies, mainly Joubert syndrome (JS, OMIM #616490) and short-rib thoracic dysplasia syndrome (SRTD, OMIM #616546). However, the hypothesis that this gene is involved with hydrolethalus syndrome (HSL, OMIM #614120) and orofaciodigital syndrome IV (OMIM #258860) has already been raised. Ciliopathies' clinical features are often overlapped despite differing in phenotype severity.
View Article and Find Full Text PDFTrichoscopic findings in neonatal alopecia in oro-facial-digital syndrome type 1.
Pediatr Dermatol
November 2024
Dermatology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
Article Synopsis
- - Oral-facial-digital syndrome type 1 (OFD1) is an X-linked dominant disorder caused by mutations in the OFD1 gene, resulting in various facial, oral, and digital abnormalities.
- - Skin symptoms occur in about 20%-30% of affected individuals and include evanescent milia (small cysts) and patchy hair loss (alopecia), which can mimic other conditions like tinea capitis.
- - Diagnosis can be confirmed through genetic testing, especially when clinicians suspect OFD1 due to specific trichoscopic findings, lack of response to antifungal treatments, and presence of midline anomalies.
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