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Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene.
Bijarnia-Mahay, Sunita; Somashekar, Puneeth H; Kaur, Parneet; Kulshrestha, Samarth; Ramprasad, Vedam L; Murugan, Sakthivel; Sud, Seema; Shukla, Anju.
Afiliación
  • Bijarnia-Mahay S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India. Bijarnia@gmail.com.
  • Somashekar PH; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Kulshrestha S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • Ramprasad VL; Medgenome Laboratories Ltd, Bengaluru, Karnataka, India.
  • Murugan S; Medgenome Laboratories Ltd, Bengaluru, Karnataka, India.
  • Sud S; Department of MRI, Sir Ganga Ram Hospital, New Delhi, India.
  • Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. anju.shukla@manipal.edu.
J Hum Genet ; 67(3): 133-136, 2022 Mar.
Article en En | MEDLINE | ID: mdl-34621002
Neutral sphingomyelinases have an important role in generation of ceramide and phosphorylcholine from sphingomyelins which then act as secondary messengers in various signaling pathways of the cellular machinery. They function ubiquitously with a predominant role in the central nervous system. Neutral sphingomyelinase type 3, encoded by SMPD4 gene has recently been reported to cause a severe autosomal recessive neurodevelopmental disorder with congenital arthrogryposis and microcephaly. We report a 22-month-old girl having characteristic features of neurodevelopmental delay, prenatal onset growth failure, arthrogryposis, microcephaly and brain anomalies including severe hypomyelination, simplified gyral pattern and hypoplasia of corpus callosum and brain stem. In addition, she was noted to have nystagmus and visual impairment secondary to macular dystrophy and retinal pigment epithelial stippling at posterior pole. Copy number variant analysis from trio whole exome sequencing (ES) enabled identification of a homozygous 11 kb deletion encompassing exons 18-20 of SMPD 4 gene, confirming the diagnosis of SMPD4-related disorder in her.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Artrogriposis / Trastornos del Neurodesarrollo / Microcefalia / Malformaciones del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Infant / Pregnancy Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: India Pais de publicación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Artrogriposis / Trastornos del Neurodesarrollo / Microcefalia / Malformaciones del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Infant / Pregnancy Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: India Pais de publicación: Reino Unido