Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
1
조회
0
다운로드
1
인용
0
참고문헌
키워드
초록
Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short stature is one of the main clinical manifestations, use of growth hormone therapy in Floating-Harbor syndrome patients has been limited. Only a few reports have investigated the response to growth hormone therapy with regard to final adult height. We report the case of a 7-year-old girl with Floating-Harbor syndrome and a heterozygous mutation, c.7330C > T (p.Arg2444*), in the SRCAP gene. The patient exhibited dysmorphic facial features, severe intellectual disabilities, obsessive-compulsive and aggressive behaviors, and short stature without growth hormone deficiency. Her height standard deviation score improved after 55 months of growth hormone therapy.
Abstract
Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short stature is one of the main clinical manifestations, use of growth hormone therapy in Floating-Harbor syndrome patients has been limited. Only a few reports have investigated the response to growth hormone therapy with regard to final adult height. We report the case of a 7-year-old girl with Floating-Harbor syndrome and a heterozygous mutation, c.7330C > T (p.Arg2444*), in the SRCAP gene. The patient exhibited dysmorphic facial features, severe intellectual disabilities, obsessive-compulsive and aggressive behaviors, and short stature without growth hormone deficiency. Her height standard deviation score improved after 55 months of growth hormone therapy.
참고문헌 (19)
- Hood RL, "The defining DNA methylation signature of Floating-Harbor Syndrome", Sci Rep, 6, pp.38803~ (2016)
- Hood RL, "Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome", Am J Hum Genet, 90, pp.308~313 (2012)
- Leisti J, "The Floating-Harbor syndrome", Birth Defects Orig Artic Ser, 11, pp.305~ (1975)
- Nagasaki K, "Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation", Am J Med Genet A, 164A, pp.731~735 (2014)
- Nikkel SM, "The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP", Orphanet J Rare Dis, 8, pp.63~ (2013)
- White SM, "The phenotype of Floating-Harbor syndrome in 10 patients", Am J Med Genet A, 152A, pp.821~829 (2010)
- Arpin S, "Floating-Harbor Syndrome : report on a case in a mother and daughter, further evidence of autosomal dominant inheritance", Clin Dysmorphol, 21, pp.11~14 (2012)
- Galli-Tsinopoulou A, "Growth hormone deficiency: an unusual presentation of floating harbor syndrome", Hormones (Athens), 10, pp.236~240 (2011)
- Seo GH, "High diagnostic yield and clinical utility of WES for patients with undiagnosed genetic disorder by automating variant interpretation", BioRxiv (2019)
- Johnston H, "Identification of a novel SNF2", SWI2 protein family member, SRCAP, which interacts with CREB-binding protein, 1999, pp.274, 16370~16376
- Budisteanu M, "Floating-Harbor syndrome : presentation of the first Romanian patient with a SRCAP mutation and review of the literature", Balkan J Med Genet, 21, pp.83~86 (2018)
- 최은미, "The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing", Clinical and Experimental Pediatrics, 61(12), pp.403~406 (2018), 대한소아청소년과학회
- García RJ, "Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome", J Pediatr Endocrinol Metab, 25, pp.207~212 (2012)
- Zhang S, "Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome", Orphanet J Rare Dis, 14, pp.144~ (2019)
- Alfares A, "A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield", Mol Genet Metab, 121, pp.91~95 (2017)
- Seifert W, "Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome", BMC Med Genet, 15, pp.127~ (2014)
- Kehrer M, "Floating-Harbor syndrome : SRCAP mutations are not restricted to exon 34", Clin Genet, 85, pp.498~499 (2014)
- Le Goff C, "Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP", Hum Mutat, 34, pp.88~92 (2013)
- Milani D, "Perthes disease : a new finding in Floating-Harbor syndrome", Am J Med Genet A, 176, pp.703~706 (2018)