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Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum

Ilse Meerschaut (UGent) , Aude Beyens (UGent) , Wouter Steyaert (UGent) , Riet De Rycke (UGent) , Katrien Bonte (UGent) , Tine De Backer (UGent) , Sandra Janssens (UGent) , Joseph Panzer (UGent) , Frank Plasschaert (UGent) , Daniël De Wolf (UGent) , et al.
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Abstract
Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variable intellectual disability, skeletal abnormalities, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin. So far, all molecularly confirmed cases harbored a de novo heterozygous gain-of-function mutation in SMAD4, encoding the SMAD4 transducer protein required for both transforming growth factor-beta and bone morphogenic proteins signaling. We report on four novel patients (one female proband and her two affected children, and one male proband) with Myhre syndrome harboring the recurrent c.1486C>T (p.Arg496Cys) mutation in SMAD4. The female proband presented with a congenital heart defect, vertebral anomalies, and facial dysmorphic features. She developed severe tracheal stenosis requiring a total laryngectomy. With assisted reproductive treatment, she gave birth to two affected children. The second proband presented with visual impairment following lensectomy in childhood, short stature, brachydactyly, stiff skin, and decreased peripheral sensitivity. Transmission electron microscopy (TEM) of the dermis shows irregular elastin cores with globular deposits and almost absent surrounding microfibrils and suggests age-related increased collagen deposition. We report on the first familial case of Myhre syndrome and illustrate the variable clinical spectrum of the disorder. Despite the primarily fibrotic nature of the disease, TEM analysis mainly indicates elastic fiber anomalies.
Keywords
(assisted) reproduction, elastinopathy, Myhre syndrome, phenotypic spectrum, TEM imaging, MUTATIONS

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MLA
Meerschaut, Ilse, et al. “Myhre Syndrome : A First Familial Recurrence and Broadening of the Phenotypic Spectrum.” AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol. 179, no. 12, 2019, pp. 2494–99.
APA
Meerschaut, I., Beyens, A., Steyaert, W., De Rycke, R., Bonte, K., De Backer, T., … Callewaert, B. (2019). Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 179(12), 2494–2499.
Chicago author-date
Meerschaut, Ilse, Aude Beyens, Wouter Steyaert, Riet De Rycke, Katrien Bonte, Tine De Backer, Sandra Janssens, et al. 2019. “Myhre Syndrome : A First Familial Recurrence and Broadening of the Phenotypic Spectrum.” AMERICAN JOURNAL OF MEDICAL GENETICS PART A 179 (12): 2494–99.
Chicago author-date (all authors)
Meerschaut, Ilse, Aude Beyens, Wouter Steyaert, Riet De Rycke, Katrien Bonte, Tine De Backer, Sandra Janssens, Joseph Panzer, Frank Plasschaert, Daniël De Wolf, and Bert Callewaert. 2019. “Myhre Syndrome : A First Familial Recurrence and Broadening of the Phenotypic Spectrum.” AMERICAN JOURNAL OF MEDICAL GENETICS PART A 179 (12): 2494–2499.
Vancouver
1.
Meerschaut I, Beyens A, Steyaert W, De Rycke R, Bonte K, De Backer T, et al. Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2019;179(12):2494–9.
IEEE
[1]
I. Meerschaut et al., “Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum,” AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol. 179, no. 12, pp. 2494–2499, 2019.
@article{8632934,
  abstract     = {Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variable intellectual disability, skeletal abnormalities, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin. So far, all molecularly confirmed cases harbored a de novo heterozygous gain-of-function mutation in SMAD4, encoding the SMAD4 transducer protein required for both transforming growth factor-beta and bone morphogenic proteins signaling. We report on four novel patients (one female proband and her two affected children, and one male proband) with Myhre syndrome harboring the recurrent c.1486C>T (p.Arg496Cys) mutation in SMAD4. The female proband presented with a congenital heart defect, vertebral anomalies, and facial dysmorphic features. She developed severe tracheal stenosis requiring a total laryngectomy. With assisted reproductive treatment, she gave birth to two affected children. The second proband presented with visual impairment following lensectomy in childhood, short stature, brachydactyly, stiff skin, and decreased peripheral sensitivity. Transmission electron microscopy (TEM) of the dermis shows irregular elastin cores with globular deposits and almost absent surrounding microfibrils and suggests age-related increased collagen deposition. We report on the first familial case of Myhre syndrome and illustrate the variable clinical spectrum of the disorder. Despite the primarily fibrotic nature of the disease, TEM analysis mainly indicates elastic fiber anomalies.},
  author       = {Meerschaut, Ilse and Beyens, Aude and Steyaert, Wouter and De Rycke, Riet and Bonte, Katrien and De Backer, Tine and Janssens, Sandra and Panzer, Joseph and Plasschaert, Frank and De Wolf, Daniël and Callewaert, Bert},
  issn         = {1552-4825},
  journal      = {AMERICAN JOURNAL OF MEDICAL GENETICS PART A},
  keywords     = {(assisted) reproduction,elastinopathy,Myhre syndrome,phenotypic spectrum,TEM imaging,MUTATIONS},
  language     = {eng},
  number       = {12},
  pages        = {2494--2499},
  title        = {Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum},
  url          = {http://dx.doi.org/10.1002/ajmg.a.61377},
  volume       = {179},
  year         = {2019},
}

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