MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation

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• 作者：Ruthann B. Pfau ; Devon Lamb Thrush ; Elizabeth Hamelberg ; Dennis Bartholomew ; Shaun Botes ; Matthew Pastore ; Christopher Tan ; Daniela del Gaudio ; Julie M. Gastier-Foster ; Caroline Astbury
• 关键词：Cell cycle proteins ; Array-based comparative genomic hybridization ; Consanguinity ; Cytogenetic analysis ; Genes ; Recessive ; MCPH1 protein ; Human ; Microcephaly ; Primary autosomal recessive 1 ; Premature chromosome condensation syndrome
• 刊名：European Journal of Medical Genetics
• 出版年：November, 2013
• 年：2013
• 卷：56
• 期：11
• 页码：609-613
• 全文大小：755 K

文摘

A newborn with severe microcephaly and a history of parental consanguinity was referred for cytogenetic analysis and subsequently for genetic evaluation. While a 46,XY karyotype was eventually obtained, premature chromosome condensation was observed. A head MRI confirmed primary microcephaly. This combination of features focused clinical interest on the MCPH1 gene and directed genetic testing by sequence analysis and duplication/deletion studies disclosed a homozygous deletion of exons 1-11 of the MCPH1 gene. This case illustrates a strength of standard cytogenetic evaluation in directing molecular testing to a single target gene in this disorder, allowing much more rapid diagnosis at a substantial cost savings for this family.