This raises the question of the association of COL1A1p.(Arg312Cys) with arterial complications and the need for a gene panel including not only the usual genes tested in search of classical or vascular EDS but also COL1A1.
The primary suspicion of vascular EDS with the unsatisfactory identification of a COL3A1 benign variant was secondarily readjusted with the identification of COL1A1 p.(Arg312Cys) variant.
To date, heterozygous or homozygous COL12A1 variants have been reported in 13 patients presenting with a clinical phenotype overlapping with collagen VI-related myopathies and Ehlers-Danlos syndrome (EDS).
We identified a known <i>COL1A1</i> (encoding collagen type I α 1 chain) mutation (c.2010delT, p.Gly671Alafs*95) in all three patients (the proband, her brother, and her mother) in this family, but also a novel heterozygous <i>COL5A1</i> (encoding collagen type V α 1 chain) mutation (c.5335A>G, p.N1779D) in the region encoding the C-terminal propeptide domain in the proband and her mother, who both had the compound phenotype of OI and EDS.
We describe the phenotype of the largest series of vEDS patients with glutamic acid to lysine substitutions (Glu>Lys) in COL3A1, which were all previously considered to be variants of unknown significance.
The absence of bone fragility in our patients indicates that cardiac valvular EDS is also separated from patients with autosomal recessive osteogenesis imperfecta and variants in COL1A2, as well as from individuals with autosomal dominant osteogenesis imperfecta and severe cardiac valvular disease.
Accordingly, our major findings (vascular smooth muscle cells with small nuclei, small percentage of elastic membrane area per tunica media, many large elastic flaps) should be considered vulnerable characteristics indicating fragility of the aorta in patients with spEDS-ZIP13.
High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
We identified a known <i>COL1A1</i> (encoding collagen type I α 1 chain) mutation (c.2010delT, p.Gly671Alafs*95) in all three patients (the proband, her brother, and her mother) in this family, but also a novel heterozygous <i>COL5A1</i> (encoding collagen type V α 1 chain) mutation (c.5335A>G, p.N1779D) in the region encoding the C-terminal propeptide domain in the proband and her mother, who both had the compound phenotype of OI and EDS.
Given that TNXB is a functional candidate gene for EDS, we suggest that compound heterozygosity for the identified TNXB variants may have caused the EDS-like phenotype in the affected dog.
With the skin hyperextensibility, joint hypermobility, papyraceous scar revealed by physical examination, and the heterozygous pathogenic variant c1997G > A (p.P659P) in COL5A2 gene revealed by whole exome sequencing, the diagnosis of the classical Ehlers-Danlos syndrome was made.
Tenascin X (TNX) deficiency is a rare type of EDS, defined as classical-like EDS (clEDS), since it phenotypically resembles the classical form of EDS, though lacking atrophic scarring.
Our report extends the phenotypic spectrum of B4GALT7-associated spondylodysplastic Ehlers-Danlos syndrome and reports results of growth hormone treatment for patients with this rare disorder.
<i>TNXB</i>-related classical-like Ehlers-Danlos syndrome (<i>TNXB</i>-clEDS) is an ultrarare type of Ehlers-Danlos syndrome due to biallelic <i>null</i> variants in <i>TNXB</i>, encoding tenascin-X.
Kyphoscoliotic Ehlers-Danlos syndrome associated with FKBP14 (FKBP14-kEDS) is an ultrarare autosomal recessive disorder reported in less than 30 individuals so far.
In this review, we will examine the variety of causes responsible for EDS in neurological diseases, including nocturnal sleep alterations, CNS pathological abnormalities with alterations in arousal and/or REM regulation systems, circadian rhythms disorders, drugs, and comorbid psychiatric or primary sleep disorders.
This report further expands the clinical, molecular and ultrastructural spectrum associated with AEBP1 defects and highlights the complex and variable phenotype associated with this new EDS variant.