Rare missense TUBGCP5 gene variant in a patient with primary microcephaly.

Rare missense TUBGCP5 gene variant in a patient with primary microcephaly. Eur J Med Genet. 2018 Dec 10;: Authors: Maver A, Čuturilo G, Kovanda A, Miletić A, Peterlin B Abstract Primary microcephalies (MCPH) are characterized by microcephaly (HC -2 SD at birth) in the absence of visceral malformations. To date, less than 20 genes have been associated with MCHP, several of which are involved in the formation and function of the centrosome. Here, we report a novel missense variant in the TUBGCP5 gene in a patient with primary microcephaly and mild developmental delay. The TUBCGP5 gene (tubulin gamma complex associated protein 5) is a paralog of TUBGCP4 and TUBGCP6, both of which are known MCPH associated genes, and like its' paralogs, is involved in centrosome formation. Furthermore, the TUBGCP5 gene is located in the 15q11.2 BP1-BP2 microdeletion Burnside-Butler susceptibility locus that is part of the larger Prader-Willi/Angelman region. Common clinical features of the 15q11.2 BP1-BP2 microdeletion include general developmental and neurodevelopmental delay which may occasionally be accompanied by yet unexplained microcephaly. In our patient, the TUBGCP5:c.2180T > G, p.Phe727Cys missense variant was identified in compound heterozygous state with 15q11.2 BP1-BP2 microdeletion using whole exome sequencing, after the initial analyses of known MCPH genes failed to identify a conclusively causative variant. The identified variant is rare and highly co...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research

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Source: Neuroscience Bulletin - Category: Neuroscience Source Type: research
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Source: Journal of Fetal Medicine - Category: Perinatology & Neonatology Source Type: research
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Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
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Source: Cytogenetic and Genome Research - Category: Genetics & Stem Cells Source Type: research
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Source: Bosnian Journal of Basic Medical Sciences - Category: Journals (General) Tags: Bosn J Basic Med Sci Source Type: research
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Source: Prenatal Diagnosis - Category: Perinatology & Neonatology Authors: Tags: Original Article Source Type: research
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Source: Obstetrical and Gynecological Survey - Category: OBGYN Tags: Obstetrics: Fetal Diagnosis and Therapy Source Type: research
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Source: Annals of Laboratory Medicine - Category: Laboratory Medicine Tags: Ann Lab Med Source Type: research
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Source: Cytogenetic and Genome Research - Category: Genetics & Stem Cells Source Type: research
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