Noonan syndrome with loose anagen hair with variants in thePPP1CB gene: First familial case reported
| Autor: | Maria Gabriela Obregon, Abel Gomez, Luis Pablo Gravina, Josefina Chinton, Victoria Huckstadt |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty integumentary system Ichthyosis business.industry Macrocephaly Loose anagen hair 030105 genetics & heredity medicine.disease Phenotype Dermatology Growth hormone deficiency 03 medical and health sciences 030104 developmental biology Genetics medicine Noonan syndrome Attention deficit hyperactivity disorder medicine.symptom business Gene Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics Part A. 185:1256-1260 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.62089 |
| Popis: | Rasopathies are a group of phenotypically overlapping conditions that include Noonan, Noonan with multiple lentigines, Noonan with loose anagen hair, Costello, Cardio-facio-cutaneous, and Neurofibromatosis-Noonan syndromes. Noonan syndrome with loose anagen hair (NS-LAH) is clinically characterized by prominent forehead, macrocephaly, growth hormone deficiency, sparse, loose and slow-growing anagen hair, hyperpigmented skin with eczema or ichthyosis, mild psychomotor delays, hypernasal voices, and attention deficit hyperactivity disorder. Variants in SHOC2 are responsible for the majority of the cases. Gripp et al. identified four unrelated individuals with similar phenotype to NS-LAH with pathogenic variants in PPP1CB. In this study, we present one family and one patient with NS-LAH and variants in PPP1CB. The first patient belongs to a family with a likely pathogenic variant, c.545T>A (p.Met182Lys), the first family published so far with a variant in this gene. The second patient harbors a de novo pathogenic variant, c.146C>G (p.Pro49Arg). This study presents two additional patients with this rare syndrome in order to increase the clinical characterization of the syndrome and provide more evidence of the pathogenicity of the c.545T>A (p.Met182Lys) variant in PPP1CB, a gene recently associated with NS-LAH. |
| Databáze: | OpenAIRE |
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