Loss of dermatan‐4‐sulfotransferase 1 (D4ST1/ CHST14 ) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate‐deficient adducted thumb–clubfoot syndrome”

CHST14/D4ST1 deficiency: New form of Ehlers–Danlos syndrome

“…Furthermore, we published a reply to Janecke et al . explaining the reasons why we categorized CHST14/D4ST1 deficiency as a form of EDS .…”

“…Five days before the aforedescribed publication by Janecke et al ., we had submitted an article describing the detailed clinical findings and courses of two additional unrelated patients and presenting a comprehensive review of all reported patients at that time . In the article, we also concluded that “adducted thumb–clubfoot syndrome”, “EDS, Kosho type”, and “musculocontractural EDS” represent a single clinically recognizable disorder characterized by multiple congenital malformations and progressive multisystem fragility‐related complications; we thus proposed the term “D4ST1‐deficient EDS” …”

Discovery and Delineation of Dermatan 4-O-Sulfotransferase-1 (D4ST1)-Deficient Ehlers-Danlos Syndrome

“…Independently identified three conditions, ATCS, EDSKT, and MCEDS caused by loss-offunction mutations in CHST14, were supposed to be a single clinically recognizable type of connective tissue disorder [7,21]. Shimizu et al [22] presented detailed clinical information of two additional unrelated patients and a comprehensive review of all reported 20 patients, which could definitely unite the three conditions named as "D4ST1-deficient EDS (DD-EDS)".…”

A response to: Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome”. Which name is appropriate, “Adducted Thumb-Clubfoot Synd

“…Lack of detailed clinical information from later childhood to adulthood in ATCS and lack of detailed clinical information from birth to early childhood in EDSKT and MCEDS have made it difficult to determine whether the three conditions would be distinct clinical entities or a single clinical entity with variable expressions and with different presentations depending on the patients' ages at diagnosis , though the latter notion was suspected to be appropriate [Janecke et al, 2011;Malfait et al, 2010]. We, therefore, have just published an article in American Journal of Medical Genetics Part A, describing detailed clinical findings and courses of two additional unrelated EDSKT patients, aged 2 and 6 years, which could definitely unite the three conditions [Shimizu et al, 2011].…”

“…ATCS is surely a helpful term to detect and diagnose patients at birth, but it is indeed questionable whether the term would be appropriate for the lifelong management of patients with the disorder. Furthermore, clinical manifestations extending beyond the core features of EDS are considered not as excluding information from EDS as Janecke et al [2011] have claimed, but as wide clinical variability in EDS such as muscle hypotonia and chronic pain in most of the types, talipes equinovarus and facial characteristics in vascular type, and congenital hip dislocation in arthrochalasia type [Beighton et al, 1998;Voermans et al, 2009].…”