Myhre syndrome: the first case in Korea
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Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. Early diagnosis of MS is difficult because its features progress and become noticeable at school age. Recently, the SMAD4 gene was identified as the major gene responsible for MS. Herein, we report the first Korean case of MS after identification of a SMAD4 mutation by clinical exome sequencing. The patient was born small for gestational age, and she had the typical clinical features of MS, including short stature, characteristic facial appearance, developmental delay, and selective mutism. She was diagnosed with central precocious puberty. Because of the patient’s precocious puberty and short stature, we administered combined recombinant human growth hormone and gonadotropin-releasing hormone agonist treatments, which resulted in improved height. While there have been 79 cases of MS reported worldwide, to our knowledge, this is the first case of genetically-confirmed MS in Korea.
Abstract
Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. Early diagnosis of MS is difficult because its features progress and become noticeable at school age. Recently, the SMAD4 gene was identified as the major gene responsible for MS. Herein, we report the first Korean case of MS after identification of a SMAD4 mutation by clinical exome sequencing. The patient was born small for gestational age, and she had the typical clinical features of MS, including short stature, characteristic facial appearance, developmental delay, and selective mutism. She was diagnosed with central precocious puberty. Because of the patient’s precocious puberty and short stature, we administered combined recombinant human growth hormone and gonadotropin-releasing hormone agonist treatments, which resulted in improved height. While there have been 79 cases of MS reported worldwide, to our knowledge, this is the first case of genetically-confirmed MS in Korea.
참고문헌 (20)
- Caputo V, "Novel SMAD4 mutation causing Myhre syndrome", Am J Med Genet A, 164A, pp.1835~1840 (2014)
- Le Goff C, "Myhre syndrome", Clin Genet, 85, pp.503~513 (2014)
- Starr LJ, "GeneReviews((R)" (1993), University of Washington
- Garavelli L, "Natural history and life-threatening complications in Myhre syndrome and review of the literature", Eur J Pediatr, 175, pp.1307~1315 (2016)
- Li H, "The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants : Functional consequences and clinical diversity", Clin Chim Acta, 500, pp.128~134 (2020)
- Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
- Nomura R, "Myhre syndrome : age-dependent progressive phenotype", Pediatr Int, 59, pp.1205~1206 (2017)
- Alagia M, "A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot", Am J Med Genet A, 176, pp.426~430 (2018)
- Burglen L, "Myhre syndrome : new reports, review, and differential diagnosis", J Med Genet, 40, pp.546~551 (2003)
- Evereklioglu C, "Weill-Marchesani syndrome in three generations", Eye(Lond), 13(Pt 6), pp.773~777 (1999)
- Varenyiova Z, "Myhre syndrome associated with Dunbar syndrome and urinary tract abnormalities : a case report", Front Pediatr, 8, pp.72~ (2020)
- Le Goff C, "Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome", Nat Genet, 44, pp.85~88 (2011)
- Dawes LJ, "TGFbeta", Smad4-dependent and-independent regulation of human lens epithelial cells, 2009, pp.50, 5318~5327
- Walton KL, "Targeting TGF-beta mediated SMAD signaling for the prevention of fibrosis", Front Pharmacol, 8, pp.461~ (2017)
- Lin AE, "Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome", Am J Med Genet A, 170, pp.2617~2631 (2016)
- Michot C, "Myhre and LAPS syndromes : clinical and molecular review of 32 patients", Eur J Hum Genet, 22, pp.1272~1277 (2014)
- Geisheker MR, "Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains", Nat Neurosci, 20, pp.1043~1051 (2017)
- McGowan R, "Clinical features and respiratory complications in Myhre syndrome", Eur J Med Genet, 54, pp.e553~e559 (2011)
- Alape D, "Life-threatening multilevel airway stenosis due to Myhre syndrome", Am J Respir Crit Care Med, 201, pp.731~732 (2020)
- Yu KP, "Myhre syndrome : a report of six Chinese patients and literature review", Clin Dysmorphol, 28, pp.145~150 (2019)