تقرير
A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone.
العنوان: | A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone. |
---|---|
المؤلفون: | Zhou P; Growth, Development, and Mental health of Children and Adolescence Center, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China., Zhu L; Growth, Development, and Mental health of Children and Adolescence Center, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China., Fan Q; Department of Pediatric, Xinqiao Hospital, Army Medical University, Chongqing, China., Liu Y; Division of Clinical Nutrition, Children's Hospital of Chongqing Medical University, Chongqing, China., Zhang T; Growth, Development, and Mental health of Children and Adolescence Center, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China., Yang T; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China., Chen J; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China., Cheng Q; Growth, Development, and Mental health of Children and Adolescence Center, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China., Li T; Growth, Development, and Mental health of Children and Adolescence Center, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China., Chen L; Growth, Development, and Mental health of Children and Adolescence Center, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China. |
المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2020 Aug; Vol. 182 (8), pp. 1967-1971. Date of Electronic Publication: 2020 Jun 01. |
نوع المنشور: | Case Reports; Research Support, Non-U.S. Gov't |
اللغة: | English |
بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
أسماء مطبوعة: | Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
مواضيع طبية MeSH: | Human Growth Hormone/*administration & dosage , Loose Anagen Hair Syndrome/*drug therapy , Noonan Syndrome/*drug therapy , Protein Phosphatase 1/*genetics, Adult ; Child ; Child, Preschool ; Female ; Genetic Predisposition to Disease ; Heart Defects, Congenital/complications ; Heart Defects, Congenital/drug therapy ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/pathology ; Humans ; Loose Anagen Hair Syndrome/complications ; Loose Anagen Hair Syndrome/genetics ; Loose Anagen Hair Syndrome/pathology ; Male ; Noonan Syndrome/complications ; Noonan Syndrome/genetics ; Noonan Syndrome/pathology ; Phenotype |
مستخلص: | Protein phosphatase 1 catalytic subunit beta (PPP1CB) is a disease-causing gene of Noonan-like syndrome, which acts via the RAS/MAPK pathway. To date, only 17 patients diagnosed with PPP1CB-related Noonan-like syndrome have been reported around the world, with few reports in Asia. Twelve reported patients are of short stature and only one patient was treated with growth hormone (GH); however, follow-up data is lacking. To the best of our knowledge, this is the first reported patient with complete recombinant human growth hormone (rhGH) treatment follow-up data; the patient has a de novo c.146C>G (p.Pro49Arg) mutation in the PPP1CB gene. The hair pattern of the patient (coarse, curly, slow growing, and fragile) combined with Noonan dysmorphic features, developmental delay, and congenital heart disease, are highly consistent with the typical features observed in Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2). rhGH treatment, administered for 3 years and 8 months, promoted the patient's linear growth. Our findings expand the data regarding the treatment of short stature in patients with NSLH2 caused by PPP1CB mutation. Clinical manifestation, growth and development process, and rhGH therapy effect data will aid in future revision of the relevant diagnosis and treatment guidelines. (© 2020 Wiley Periodicals LLC.) |
References: | Aoki, Y., Niihori, T., Banjo, T., Okamoto, N., Mizuno, S., Kurosawa, K., … Matsubara, Y. (2013). Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. American Journal of Human Genetics, 93, 173-180. https://doi.org/10.1016/j.ajhg.2013.05.021. Bertola, D., Yamamoto, G., Buscarilli, M., Jorge, A., Passos-Bueno, M. R., & Kim, C. (2017). The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. American Journal of Medical Genetics. Part A, 173, 824-828. https://doi.org/10.1002/ajmg.a.38070. Capalbo, D., Scala, M. G., Melis, D., Minopoli, G., Improda, N., Palamaro, L., … Salerno, M. (2012). Clinical heterogeneity in two patients with Noonan-like syndrome associated with the same SHOC2 mutation. Italian Journal of Pediatrics, 38, 48. https://doi.org/10.1186/1824-7288-38-48. Clayton, P. E., Cianfarani, S., Czernichow, P., Johannsson, G., Rapaport, R., & Rogol, A. (2007). Management of the child born small for gestational age through to adulthood: A consensus statement of the International Societies of Pediatric Endocrinology and the Growth Hormone Research Society. The Journal of Clinical Endocrinilogy and Metabolism, 92, 804-810. https://doi.org/10.1210/jc.2006-2017. Cook, D. M., & Rose, S. R. (2012). A review of guidelines for use of growth hormone in pediatric and transition patients. Pituitary, 15, 301-310. https://doi.org/10.1007/s11102-011-0372-6. Couser, N. L., Keelean-Fuller, D., Davenport, M. L., Haverfield, E., Masood, M. M., Henin, M., & Aylsworth, A. S. (2018). Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1. American Journal of Medical Genetics. Part A, 176, 2024-2027. https://doi.org/10.1002/ajmg.a.40432. Gardosi, J., Francis, A., Turner, S., & Williams, M. (2018). Customized growth charts: Rationale, validation and clinical benefits. American Journal of Obstetrics and Gynecology, 218, S609-S618. https://doi.org/10.1016/j.ajog.2017.12.011. Gripp, K. W., Aldinger, K. A., Bennett, J. T., Baker, L., Tusi, J., Powell-Hamilton, N., … Dobyns, W. B. (2016). A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. American Journal of Medical Genetics. Part A, 170, 2237-2247. https://doi.org/10.1002/ajmg.a.37781. Jorge, A. A., Malaquias, A. C., Arnhold, I. J., & Mendonca, B. B. (2009). Noonan syndrome and related disorders: A review of clinical features and mutations in genes of the RAS/MAPK pathway. Hormone Research, 71, 185-193. https://doi.org/10.1159/000201106. Ma, L., Bayram, Y., McLaughlin, H. M., Cho, M. T., Krokosky, A., Turner, C. E., … Chung, W. K. (2016). De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Human Genetics, 135, 1399-1409. https://doi.org/10.1007/s00439-016-1731-1. Malaquias, A. C., Brasil, A. S., Pereira, A. C., Arnhold, I. J., Mendonca, B. B., Bertola, D. R., & Jorge, A. A. (2012). Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway. American Journal of Medical Genetics. Part A, 158A, 2700-2706. https://doi.org/10.1002/ajmg.a.35519. Mazzanti, L., Tamburrino, F., Scarano, E., Perri, A., Vestrucci, B., Guidetti, M., … Tartaglia, M. (2013). GH therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome). American Journal of Medical Genetics. Part A, 161A, 2756-2761. https://doi.org/10.1002/ajmg.a.36255. Ranke, M. B., Lindberg, A., Carlsson, M., Camacho-Hubner, C., & Rooman, R. (2019). Treatment with growth hormone in Noonan syndrome observed during 25 years of KIGS: Near adult height and outcome prediction. Hormone Research in Paediatrics, 91, 46-55. https://doi.org/10.1159/000498859. Romero, R., & Tarca, A. L. (2018). Fetal size standards to diagnose a small- or a large-for-gestational-age fetus. American Journal of Obstetrics and Gynecology, 218, S605-S607. https://doi.org/10.1016/j.ajog.2017.12.217. Schuhmacher, A. J., Hernández-Porras, I., García-Medina, R., & Guerra, C. (2017). Noonan syndrome: Lessons learned from genetically modified mouse models. Expert Review of Endocrinology & Metabolism, 12, 367-378. https://doi.org/10.1080/17446651.2017.1361821. Subspecialty Group of Endocrinologic, Hereditary and Metabolic Diseases, Society of Pediatrics, Chinese Medical Association The Editorial Board, Chinese Journal of Pediatrics. (2013). Recommendations for the clinical use of recombinant human growth hormone in children. Chinese Journal of Pediatrics, 51, 426-432. https://doi.org/10.3760/cma.j.issn.0578-1310.2013.06.007. Takasawa, K., Takishima, S., Morioka, C., Nishioka, M., Ohashi, H., Aoki, Y., … Morio, T. (2015). Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy. American Journal of Medical Genetics. Part A, 167A, 2425-2429. https://doi.org/10.1002/ajmg.a.37191. Umeki, I., Niihori, T., Abe, T., Kanno, S. I., Okamoto, N., Mizuno, S., … Aoki, Y. (2019). Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. Human Genetics, 138, 21-35. https://doi.org/10.1007/s00439-018-1951-7. Young, L. C., Hartig, N., Boned Del Rio, I., Sari, S., Ringham-Terry, B., Wainwright, J. R., … Rodriguez-Viciana, P. (2018). SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis. Proceedings of the National Academy of Sciences of the United States of America, 115, E10576-E10585. https://doi.org/10.1073/pnas.1720352115. Zambrano, R. M., Marble, M., Chalew, S. A., Lilje, C., Vargas, A., & Lacassie, Y. (2017). Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair. American Journal of Medical Genetics. Part A, 173, 565-567. https://doi.org/10.1002/ajmg.a.38056. Zavras, N., Meazza, C., Pilotta, A., Gertosio, C., Pagani, S., Tinelli, C., & Bozzola, M. (2015). Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency. Italian Journal of Pediatrics, 41, 71. https://doi.org/10.1186/s13052-015-0183-x. Zmolikova, M., Puchmajerova, A., Hecht, P., Lebl, J., Trkova, M., & Krepelova, A. (2014). Coarctation of the aorta in Noonan-like syndrome with loose anagen hair. American Journal of Medical Genetics. Part A, 164A, 1218-1221. https://doi.org/10.1002/ajmg.a.36404. |
فهرسة مساهمة: | Keywords: PPP1CB; Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2); linear growth; recombinant human growth hormone; treatment |
المشرفين على المادة: | 12629-01-5 (Human Growth Hormone) EC 3.1.3.16 (PPP1CB protein, human) EC 3.1.3.16 (Protein Phosphatase 1) |
تواريخ الأحداث: | Date Created: 20200602 Date Completed: 20210603 Latest Revision: 20210603 |
رمز التحديث: | 20240628 |
DOI: | 10.1002/ajmg.a.61638 |
PMID: | 32476286 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1552-4833 |
---|---|
DOI: | 10.1002/ajmg.a.61638 |