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Case Reports
. 2018 Jul 18;19(1):118.
doi: 10.1186/s12881-018-0625-6.

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report

Imane Cherkaoui Jaouad  1   2 , Abdelali Zrhidri  3 , Wafaa Jdioui  3   4 , Jaber Lyahyai  3 , Laure Raymond  5 , Grégory Egéa  5 , Mohamed Taoudi  5 , Said El Mouatassim  5 , Abdelaziz Sefiani  3   4
Affiliations
Case Reports

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report

Imane Cherkaoui Jaouad et al. BMC Med Genet. .

Abstract

Background: Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by a reduced head circumference at birth with no remarkable anomalies of brain architecture and variable degrees of intellectual impairment. Clinical and genetic heterogeneity in genetic disorders represent a major diagnostic challenge.

Case presentation: Two patients, 11 and 9 years old, born from consanguineous parents, were referred to the department of medical genetics at the National Institute of Health in Rabat. The diagnosis of MCPH was made, based on reduced head circumference without brain architecture abnormalities. The two patients were subject to the whole-exome sequencing, which allowed to diagnose a novel homozygous mutation c.1027C > T; p.Gln343* in exon 8 of WDR62, a gene already known to be related to MCPH. Sanger sequencing confirmed the segregation of the mutation in the family.

Conclusion: Our data expends the spectrum of mutations in WDR62 gene, proves the efficiency and cost-effectiveness of whole exome sequencing for the molecular diagnosis of genetically heterogeneous disorders such MCPH. Exome sequencing led to the rapid and cost-effective identification of a novel homozygous mutation in WDR62 gene, thereby facilitating genetic counseling.

Keywords: Autosomal recessive primary microcephaly; Genetic heterogeneity; WDR62; Whole exome sequencing.

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Ethics approval and consent to participate

All authors state that they have obtained a written consent from the parents/legal guardians for genetic studies.

Consent for publication

Written consent has been obtained from the parents/legal guardians for publication of clinical details, radiological and biological data.

Competing interests

The authors declare that they have no competing interests.

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Figures

Fig. 1
Fig. 1
Pedigree of the studied family. Filled symbols represent affected individuals and open symbols represent unaffected individuals
Fig. 2
Fig. 2
Electrophoregrams showing the c.1027C > T homozygous mutation in the patient (a) and the heterozygous mutation in the parents (b). Arrows indicate the region of the mutation
See this image and copyright information in PMC

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