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Primary microcephal...
Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42
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- Zakaria, Muhammad (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi,Science for Life Laboratory, SciLifeLab,Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan;Centre for Human Genetics, Hazara University, Mansehra, Pakistan
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- Fatima, Ambrin (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Klar, Joakim, 1974- (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
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- Wikström, Johan, 1964- (author)
- Uppsala universitet,Radiologi
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Abdullah, Uzma (author)
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Ali, Zafar (author)
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Akram, Talia (author)
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Tariq, Muhammad (author)
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Ahmad, Habib (author)
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- Schuster, Jens, Assistant Professor, 1972- (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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Baig, Shahid M (author)
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- Dahl, Niklas (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
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(creator_code:org_t)
- 2019-05-24
- 2019
- English.
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In: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 40:7, s. 899-903
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Biallelic and pathogenic variants in the RTTN gene, encoding the centrosomal protein Rotatin, are associated with variable degrees of neurodevelopmental abnormalities, microcephaly, and extracranial malformations. To date, no reported case has reached their third decade. Herein, we report on a consanguineous family with three adult members, age 43, 57, and 60 years respectively, with primary microcephaly, developmental delay, primordial dwarfism, and brachydactyly segregating a homozygous splice site variant NM_173630.3:c.5648–5T>A in RTTN. The variant RTTN allele results in a nonhypomorphic skipping of exon 42 and a frameshift [(NP_775901.3:p.Ala1883Glyfs*6)]. Brain MRI of one affected individual showed markedly reduced volume of cerebral lobes and enlarged sulci but without signs of neural migration defects. Our assessment of three adult cases with a biallelic RTTN variant shows that a predicted shortened Rotatin, lacking the C‐terminal end, are associated with stationary clinical features into the seventh decade. Furthermore, our report adds brachydactyly to the phenotypic spectrum in this pleiotropic entity.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- RTTN gene variant
- Microcephaly
- Rotatin
- brachydatyly
- exon skipping
- Klinisk genetik
- Clinical Genetics
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Zakaria, Muhamma ...
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Fatima, Ambrin
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Klar, Joakim, 19 ...
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Wikström, Johan, ...
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Abdullah, Uzma
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Ali, Zafar
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show more...
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Akram, Talia
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Tariq, Muhammad
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Ahmad, Habib
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Schuster, Jens, ...
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Baig, Shahid M
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Dahl, Niklas
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Human Mutation
- By the university
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Uppsala University