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

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 c...

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Published inEuropean journal of medical genetics Vol. 56; no. 11; pp. 609 - 613
Main Authors Pfau, Ruthann B., Thrush, Devon Lamb, Hamelberg, Elizabeth, Bartholomew, Dennis, Botes, Shaun, Pastore, Matthew, Tan, Christopher, del Gaudio, Daniela, Gastier-Foster, Julie M., Astbury, Caroline
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier Masson SAS 01.11.2013
Subjects
Array-based comparative genomic hybridization
Cell cycle proteins
Chromosomes, Human - genetics
Consanguinity
Cytogenetic analysis
Exons
Gene Deletion
Genes
Homozygote
Human
Humans
Infant, Newborn
Karyotype
Male
Maxillofacial Abnormalities - diagnosis
Maxillofacial Abnormalities - genetics
MCPH1 protein
Medical Education
Microcephaly
Microcephaly - diagnosis
Microcephaly - genetics
Nerve Tissue Proteins - genetics
Premature chromosome condensation syndrome
Primary autosomal recessive 1
Recessive
Syndrome
Human
Cytogenetic analysis
Premature chromosome condensation syndrome
Genes
Primary autosomal recessive 1
Consanguinity
Recessive
MCPH1 protein
Microcephaly
Cell cycle proteins
Array-based comparative genomic hybridization
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Summary: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.
Bibliography:ObjectType-Case Study-2
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ISSN:1769-7212
1878-0849
1878-0849
DOI:10.1016/j.ejmg.2013.09.007