Freeman-Sheldon Syndrome (Whistling Face Syndrome) and Cranio-Vertebral Junction Malformation Producing Dysphagia and Weight Loss

Song, Hae Ryong; Sarwark, John F.; Sauntry, Sarah; Grant, John A.

doi:10.1159/000121051

Cited by 8 publications

(5 citation statements)

References 8 publications

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“…DA2A is characterized by congenital contractures of the upper and lower limbs, distinctive facial features, and motor delays. The phenotypic expressivity is highly variable 22 . DA2B is the most common of the distal arthrogryposis syndromes 23 and the congenital contractures tend to be similar though milder than DA2A.…”

mentioning

confidence: 99%

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

Zieba

Zhang

Chong

et al. 2017

Sci Rep

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Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by progressive vertebral, carpal and tarsal fusions, and mild short stature. The majority of affected individuals have an autosomal recessive form of SCT and are homozygous or compound heterozygous for nonsense mutations in the gene that encodes the cytoskeletal protein filamin B (FLNB), but a subset do not have FLNB mutations. Exome sequence analysis of three SCT patients negative for FLNB mutations identified an autosomal dominant form of the disease due to heterozygosity for missense or nonsense mutations in MYH3, which encodes embryonic myosin. Cells transfected with the MYH3 missense mutations had reduced TGFβ signaling, revealing a regulatory role for embryonic myosin in the TGFβ signaling pathway. In wild-type mice, there was persistent postnatal expression of embryonic myosin in the small muscles joining the neural arches of the spine suggesting that loss of myosin function in these muscles contribute to the disease. Our findings demonstrate that dominant mutations in MYH3 underlie autosomal dominant SCT, identify a postnatal role for embryonic myosin and suggest that altered regulation of signal transduction in the muscles within the spine may lead to the development of vertebral fusions.

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confidence: 99%

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

Zieba

Zhang

Chong

et al. 2017

Sci Rep

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“…Intelligence is usually normal, although mental disability have been also reported in some cases [4][5][6]. Congenital respiratory system abnormalities and microstomia related feeding problems have been documented in a number of cases (Song et al, 1996;Corrigan et al, 2006;Antley et al, 1975). Presentation of complications in adolescence has also been reported.…”

Section: Freeman-sheldon Syndromementioning

confidence: 99%

Microstomia: A Rare but Serious Oral Manifestation of Inherited Disorders

Gülses¹

2011

Advances in the Study of Genetic Disorders

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“…Song et al . described a 13-year-old with Freeman-Sheldon syndrome who developed late-onset dysphagia and subsequent weight loss [7].…”

Section: Introductionmentioning

confidence: 99%

“…Intelligence is usually normal, although some cases have been reported in association with mental disability [4–6]. Congenital respiratory system abnormalities and feeding problems have been documented in a number of cases [1,2,7]. Presentation of complications in adolescence has also been reported.…”

Section: Introductionmentioning

confidence: 99%