Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome
| Autor: | Julie Hoover-Fong, David Valle, Andres Dufke, Ethylin Wang Jabs, Jeske J.T. van Harssel, John C. Carey, Nara Sobreira, Angela Robles, Carlos E. Speck-Martins, Aida Telegrafi, Bryn D. Webb, Irini Manoli, Leah Fleming, Alain Verloes, Sarah M. Robbins, Richard J. Redett, Gunnar Houge, Elizabeth C. Engle, David R. FitzPatrick |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Proband Adult Male Möbius syndrome Pediatrics medicine.medical_specialty Adolescent Short stature Article 03 medical and health sciences Young Adult 0302 clinical medicine Ptosis Muscular Diseases Genetics medicine Journal Article Humans Child Kyphoscoliosis Genetics (clinical) Adaptor Proteins Signal Transducing Pierre Robin Syndrome business.industry Facial weakness medicine.disease Prognosis Hypotonia Mobius Syndrome Pedigree 030104 developmental biology Mutation Pierre Robin syndrome Female medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Telegrafi, A, Webb, B D, Robbins, S M, Speck-Martins, C E, FitzPatrick, D, Fleming, L, Redett, R, Dufke, A, Houge, G, van Harssel, J J T, Verloes, A, Robles, A, Manoli, I, Engle, E C, Jabs, E W, Valle, D, Carey, J & Hoover-Fong, J E & Sobreira, N L M 2017, ' Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome ', American Journal of Medical Genetics Part A, vol. 173, no. 10 . https://doi.org/10.1002/ajmg.a.38375 |
| Popis: | Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Here we present two non-Native American families, who were found to have STAC3 pathogenic variants. The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis. We identified the homozygous c.851G>C;p.Trp284Ser variant in STAC3 in both sisters. The second proband and his affected sister are from a non-consanguineous, Puerto Rican family who was evaluated for a possible diagnosis of Moebius syndrome (MBS). His features included facial and generalized weakness, minimal limitation of horizontal gaze, cleft palate, and hypotonia, and he has a history of MH. The siblings were identified to be compound heterozygous for STAC3 variants c.851G>C;p.Trp284Ser and c.763_766delCTCT;p.Leu255IlefsX58. Given the phenotypic overlap of individuals with CFZS, MBS, and NAM, we screened STAC3 in 12 individuals diagnosed with CFZS and in 50 individuals diagnosed with MBS or a congenital facial weakness disorder. We did not identify any rare coding variants in STAC3. NAM should be considered in patients presenting with facial and generalized weakness, normal or mildly abnormal extraocular movement, hypotonia, cleft palate, and scoliosis, particularly if there is a history of MH. |
| Databáze: | OpenAIRE |
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