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Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants - A diagnostic challenge.
Salgado, Paula; Carvalho, Rui; Brandão, Ana Filipa; Jorge, Paula; Ramos, Cristina; Dias, Daniel; Alonso, Isabel; Magalhães, Marina.
Afiliación
  • Salgado P; Department of Neurology, Centro Hospitalar do Porto, Porto, Portugal.
  • Carvalho R; Department of Endocrinology, Centro Hospitalar do Porto, Porto, Portugal.
  • Brandão AF; Oporto University, i3S - Instituto de Investigação e Inovação em Saúde, Centro de Genética Preditiva e Preventiva (CGPP), Instituto de Biologia Molecular e Celular (IBMC), Porto, Portugal.
  • Jorge P; Unidade de Genética Molecular no Centro de Genética Médica Dr. Jacinto Magalhães, Centro Hospitalar do Porto, Porto, Portugal.
  • Ramos C; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto - UMIB/ICBAS/UP, Porto, Portugal.
  • Dias D; Department of Neurorradiology, Centro Hospitalar do Porto, Porto, Portugal.
  • Alonso I; Department of Neurorradiology, Centro Hospitalar do Porto, Porto, Portugal.
  • Magalhães M; Oporto University, i3S - Instituto de Investigação e Inovação em Saúde, Centro de Genética Preditiva e Preventiva (CGPP), Instituto de Biologia Molecular e Celular (IBMC), Porto, Portugal.
eNeurologicalSci ; 14: 9-12, 2019 Mar.
Article en En | MEDLINE | ID: mdl-30555943
BACKGROUND: Gordon Holmes syndrome (GHS), characterized by cerebellar ataxia and hypogonadotropic hypogonadism (HH), has been related to recessive mutations in PNPLA6 gene. AIMS OF THE STUDY: Describe one Portuguese family with GHS due to compound heterozygosity of two new PNPLA6 variants. METHODS: Report on the clinical presentation, diagnostic and genetic workup to reach GHS diagnosis. RESULTS: The index case presented with slight cognitive impairment and primary amenorrhea, developed at the age of 25 a cerebellar syndrome. Her neurological exam revealed ataxia and mild extrapyramidal syndrome. She was born from non-consanguineous parents and had 8 siblings. Two of her sisters also had history of primary amenorrhea, tremor and ataxia. All 3 were diagnosed with HH and previous FMR1 gene screening on her sisters revealed a 51 CGGs allele. However, 2 normal-sized FMR1 alleles were identified on the proband thus excluding the FXTAS diagnosis in the family. Further PNPLA6 variant screening revealed 2 novel variants in compound heterozygosity [c.2404G > C]; [c.4081C > T], which co-segregated with the disease. CONCLUSIONS: This case shows how incomplete studies can be misleading, increases genetic knowledge of GHS and expands its clinical spectrum. The coexistence of a FMR1 intermediate allele in this family constituted an additional challenge in the etiological investigation.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: ENeurologicalSci Año: 2019 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: ENeurologicalSci Año: 2019 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Países Bajos