TY - JOUR
T1 - Microcephaly with simplified gyral pattern in six related children
AU - Peiffer, Andy
AU - Singh, Nanda
AU - Leppert, Mark
AU - Dobyns, William B.
AU - Carey, John C.
PY - 1999
Y1 - 1999
N2 - We describe clinical and neurophysiological findings in six related children with congenital microcephaly, seizures that began within the first 2-4 months of life, and severe mental retardation (MR). These affected children (five girls and one boy), born to two women who are half-sisters, inherited the disease as an autosomal recessive trait. Physical examination of these children did not show any of the anomalies in the known cortical malformation syndromes such as lissencephaly types I and II. Neuroradiological studies in these children documented microcephaly and a simplified gyral pattern with no pachygyria. Chromosomal analysis showed neither karyotypic abnormalities nor a microdeletion at 17p13.3, site of the lissencephaly type I gene locus (LIS1). Genetic studies failed to show linkage of this family to LIS1, LIS2 (a region on chromosome 2p homologous to LIS1), or MCPH1 (a locus for primary autosomal recessive microcephaly). The unique clinical and genetic findings in this family suggest that these children may be affected by an as-of-yet unmapped neuronal proliferation disorder.
AB - We describe clinical and neurophysiological findings in six related children with congenital microcephaly, seizures that began within the first 2-4 months of life, and severe mental retardation (MR). These affected children (five girls and one boy), born to two women who are half-sisters, inherited the disease as an autosomal recessive trait. Physical examination of these children did not show any of the anomalies in the known cortical malformation syndromes such as lissencephaly types I and II. Neuroradiological studies in these children documented microcephaly and a simplified gyral pattern with no pachygyria. Chromosomal analysis showed neither karyotypic abnormalities nor a microdeletion at 17p13.3, site of the lissencephaly type I gene locus (LIS1). Genetic studies failed to show linkage of this family to LIS1, LIS2 (a region on chromosome 2p homologous to LIS1), or MCPH1 (a locus for primary autosomal recessive microcephaly). The unique clinical and genetic findings in this family suggest that these children may be affected by an as-of-yet unmapped neuronal proliferation disorder.
KW - Autosomal recessive microcephaly
KW - Neuronal proliferation disorder
KW - Seizures
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U2 - 10.1002/(SICI)1096-8628(19990521)84:2<137::AID-AJMG10>3.0.CO;2-J
DO - 10.1002/(SICI)1096-8628(19990521)84:2<137::AID-AJMG10>3.0.CO;2-J
M3 - Article
C2 - 10323739
AN - SCOPUS:0032955891
SN - 0148-7299
VL - 84
SP - 137
EP - 144
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -