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. |
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| 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.) |
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| 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 |
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| DOI: | 10.1002/ajmg.a.61638 |