تقرير
Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2.
| العنوان: | Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2. |
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| المؤلفون: | Maruwaka K; Department of Pediatrics, Japanese Red Cross Aichi Medical Center Nagoya Daini Hospital, Nagoya, Japan., Nakajima Y; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan., Yamada T; Department of Pediatrics, Japanese Red Cross Aichi Medical Center Nagoya Daini Hospital, Nagoya, Japan., Tanaka T; Department of Pediatrics, Japanese Red Cross Aichi Medical Center Nagoya Daini Hospital, Nagoya, Japan., Kosaki R; Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan., Inagaki H; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan., Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Kurahashi H; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan. |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jul; Vol. 188 (7), pp. 2246-2250. Date of Electronic Publication: 2022 Mar 25. |
| 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: | Abnormalities, Multiple*/pathology , Human Growth Hormone*/genetics , Loose Anagen Hair Syndrome*/diagnosis , Loose Anagen Hair Syndrome*/genetics , Loose Anagen Hair Syndrome*/pathology , Megalencephaly*/pathology , Noonan Syndrome*/diagnosis , Noonan Syndrome*/genetics , Noonan Syndrome*/pathology, Hair/pathology ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Japan ; Mutation |
| مستخلص: | Noonan syndrome-like disorder with loose anagen hair (NSLH) is a rare disease characterized by typical features of Noonan syndrome with additional findings of relative or absolute macrocephaly, loose anagen hair, and a higher incidence of intellectual disability. NSLH1 is caused by a heterozygous mutation in the SHOC2 gene on chromosome 10q25, and NLSH2 is caused by a heterozygous mutation in the Protein phosphatase one catalytic subunit beta (PPP1CB) gene on chromosome 2p23. Protein phosphatase1 (PP1), encoded by PPP1CB, forms a complex with SHOC2 and dephosphorylates RAFs, which results in activation of the signaling cascade and contribution to Noonan syndrome pathogenesis. Here, we report two genetically confirmed Japanese patients with NSLH2 having the same de novo mutation in PPP1CB presenting prominent-hyperteloric-appearing eyes and a tall forehead similar to individuals carrying a mutation in PPP1CB, c.146C > G; p.Pro49Arg, which is different from typical facial features of Noonan syndrome. They also showed short stature, absolute macrocephaly, and loose anagen hair like NSLH1: however, growth hormone deficiency often seen in NSLH1 caused by SHOC2 mutation was absent. Although a number of Noonan syndrome and NSLH1 patients have shown blunted or no response to GH therapy, linear growth was promoted by recombinant human growth hormone (rhGH) in one of our patients. Since another NSLH2 patient with good response to rhGH treatment was reported, rhGH therapy may be effective in patients with NSLH2. (© 2022 Wiley Periodicals LLC.) |
| References: | 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(3), 824-828. https://doi.org/10.1002/ajmg.a.38070. 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. 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(12), 1399-1409. https://doi.org/10.1007/s00439-016-1731-1. 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(2), 565-567. https://doi.org/10.1002/ajmg.a.38056. Zhou, P., Zhu, L., Fan, Q., Liu, Y., Zhang, T., Yang, T., … Chen, L. (2020). A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone. American Journal of Medical Genetics: Part A, 182, 1967-1971. https://doi.org/10.1002/ajmg.a.61638. |
| فهرسة مساهمة: | Keywords: Noonan syndrome-like disorder with loose anagen hair 2; PPP1CB; recombinant human growth hormone therapy; short stature without growth hormone deficiency |
| المشرفين على المادة: | 0 (Intracellular Signaling Peptides and Proteins) 0 (SHOC2 protein, human) 12629-01-5 (Human Growth Hormone) |
| تواريخ الأحداث: | Date Created: 20220326 Date Completed: 20220614 Latest Revision: 20220812 |
| رمز التحديث: | 20240829 |
| DOI: | 10.1002/ajmg.a.62733 |
| PMID: | 35338599 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.62733 |