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

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...

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Bibliographic Details
Published in:BMC medical genetics 2018-07, Vol.19 (1), p.118-118, Article 118
Main Authors: Cherkaoui Jaouad, Imane, Zrhidri, Abdelali, Jdioui, Wafaa, Lyahyai, Jaber, Raymond, Laure, Egéa, Grégory, Taoudi, Mohamed, El Mouatassim, Said, Sefiani, Abdelaziz
Format: Article
Language:English
Subjects:
Autosomal recessive primary microcephaly
Birth weight
Brain
Brain - abnormalities
Brain architecture
Care and treatment
Case Report
Case reports
Case studies
Child
Chromosome abnormalities
Deoxyribonucleic acid
Diagnosis
DNA
Female
Genetic counseling
Genetic disorders
Genetic heterogeneity
Genomes
Homozygote
Humans
Intellectual disabilities
Male
Microcephaly
Microcephaly - genetics
Mutation
Mutation - genetics
Nerve Tissue Proteins - genetics
Parents & parenting
Patients
Pedigree
Software
WDR62
Whole exome sequencing
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Summary: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. 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. 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.
ISSN:1471-2350
1471-2350
DOI:10.1186/s12881-018-0625-6