Your browser doesn't support javascript.
loading
A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone.
Zhou, Ping; Zhu, Lin; Fan, Qiongli; Liu, Yongfang; Zhang, Tianxiu; Yang, Ting; Chen, Jie; Cheng, Qian; Li, Tingyu; Chen, Li.
Afiliación
  • Zhou P; Growth, Development, and Mental health of Children and Adolescence Center, Children's Hospital of Chongqing Medical University, Chongqing, China.
  • Zhu L; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.
  • Fan Q; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.
  • Liu Y; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.
  • Zhang T; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China.
  • Yang T; Growth, Development, and Mental health of Children and Adolescence Center, Children's Hospital of Chongqing Medical University, Chongqing, China.
  • Chen J; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.
  • Cheng Q; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.
  • Li T; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.
  • Chen L; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China.
Am J Med Genet A ; 182(8): 1967-1971, 2020 08.
Article en En | MEDLINE | ID: mdl-32476286
ABSTRACT
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.
Asunto(s)
Palabras clave

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hormona de Crecimiento Humana / Proteína Fosfatasa 1 / Síndrome del Cabello Anágeno Suelto / Síndrome de Noonan Tipo de estudio: Guideline Límite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: China

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hormona de Crecimiento Humana / Proteína Fosfatasa 1 / Síndrome del Cabello Anágeno Suelto / Síndrome de Noonan Tipo de estudio: Guideline Límite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: China