Familial cerebral cavernous malformation is an autosomal dominant vascular disorder with age‐dependent penetrance and marked intrafamilial variability and genotype–phenotype correlations remain limited.
Abstract
Familial cerebral cavernous malformation (CCM) is an autosomal dominant vascular disorder with age‐dependent penetrance and marked intrafamilial variability. KRIT1 loss‐of‐function variants are the most common genetic cause, but pediatric genotype–phenotype correlations remain limited.
Treacher Collins syndrome (TCS) is a congenital craniofacial disorder characterized by malar and mandibular hypoplasia, downward‐slanting palpebral fissures, and conductive hearing loss. Pathogenic variants in TCOF1 account for most cases, with POLR1D, POLR1C, and POLR1B also implicated.
In children with unexplained multisystem involvement—global developmental delay, dysmorphism, skeletal anomalies, and severe transfusion‐dependent anemia—especially from consanguineous families, whole‐exome sequencing should be pursued early to enable timely diagnosis, proactive iron chelation, and genetic counseling.
Arimanda Chaitanya Laasya Reddy, A. Priya, Aditya Pachwa et al.· Clinical Case Reports· 0 citations
Congenital afibrinogenemia is an extremely rare autosomal recessive bleeding disorder with an estimated incidence of one in one million, caused by mutations in the fibrinogen‐encoding genes.
Comprehensive genetic testing, longitudinal phenotyping, and genotype‐informed management are essential for optimal diagnosis and care in this rare disorder and underscores the critical role of genotype in determining disease severity.
D. Muhmann, G. Haliloglu, M. A. Grimalt et al.· European Journal of Neurolog...· 0 citations
Huriez syndrome is a rare SMARCAD1-associated genodermatosis with variable clinical expression and cutaneous cancer risk. We describe a multigenerational family with a SMARCAD1 splice-site duplication affecting the skin-specific isoform, associated with marked phenotypic heterogeneity. This case highlights the importan...
B. Doolan, Yi-Ming Wang, I. Lara-Corrales et al.· Clincal and Experimental Der...· 0 citations
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder mainly caused by pathogenic variants in
ACVRL1
or
ENG
. We identified a novel heterozygous
ACVRL1
p.Cys95Ser variant in a Japanese family with HHT. The variant co-segregated with clinical features and was associated with im...
Hiroyuki Shimada, Yasuto Sano, Takuma Asahi et al.· Human Genome Variation· 0 citations
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