Genetics of congential malformations of the central nervous system

ABSTRACT

This study was conducted on one hundred and four patients with the aim of studying the genetics of CNS malformations as well as determining the relation between CNS malformations and inbreeding. Microcephaly was present in forty-five patients of which thirty-seven had single gene defects, seven had a chromosomal abnormality, while one patient was born to a diabetic mother. Neural tube defects [NTD] were present in thirty-two patients, whereas macrocephaly was present in eleven patients. Congenital hydrocephaly was present in nine patients, while holoprosencephaly [HPE] was present in seven patients. The frequency of consanguineous mating among parents of children with CNS malformations was 48.1%, this value was significantly higher than that of the general population. Parental consanguinity was significantly higher in patients with microcephaly, macrocephaly and congenital hydrocephaly. The average inbreeding coefficient in patients with CNS malformations was double that of the Egyptian population. It was especially elevated in patients with microcephaly, macrocephaly and hydrocephaly reflecting increased homozygosity