microcephaly type 1, primary, autosomal recessive

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microcephaly type 1, primary, autosomal recessive

An autosomal recessive primary microcephaly (OMIM:251200) characterised by a disproportionately small brain and cerebral cortex, with a well-preserved gyral pattern and no major defects in cortical architecture. Microcephaly is defined by a head circumference ≥ 3 standard deviations below the age-related mean; primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits.
 
Molecular pathology
Caused by defects of MCPH1, which encodes a DNA damage response protein that may play a role in G2/M checkpoint arrest.
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References in periodicals archive ?
Sanger sequencing: Our Sanger sequencing results showed a compound heterozygous mutation in MCPH1 gene where at 982 (c.982G>A) and at position 1273 (c.1273T>A) in exon 8 of the both affected IV-1, and IV-2 proband whereas the one parent was heterozygous at one position while other was heterozygous at other position as shown in (Fig.2).
"Here, we successfully generated 11 transgenic rhesus monkeys (8 first-generation and 3 second-generation) carrying human copies of MCPH1, an important gene for (https://www.ibtimes.com/pig-brains-revived-hours-after-death-changing-brain-dead-theories-2786358) brain development and brain evolution," the researchers wrote on their paper.
Researchers inserted human versions of MCPH1, a gene that scientists believe plays a role in the development of the human brain, into 11 rhesus monkeys.
Les chercheurs ont implante a 11 macaques rhesus des versions humaines du gene MCPH1, qui selon des estimations scientifiques jouent un role dans le developpement du cerveau humain.
Microcephalin which refers to MCPH1 (Jackson et al., 2002; Darvish et al., 2010).
miRNA Target Partial target genes numbers miR-2070-3p 1352 SH3D21, BCL7C, ACTR3B, EPC1 miR-222 624 RGS6, HMG20A, RBM15, NFE2 miR-502-3p 462 CRTC1, FGD1, CCL8, STARD8 miR-6238 391 Mcph1, PDZK1 miR-7446-3p 414 KLF13, SIAH2, TUB miR-7475-5p 517 LDB1, DVL3, PEG3, LRP1, LATS2, EFHD2 miR-125a-5p 2246 ESRRa, SENP2, BCL2L12, SREBP-1, ABCA2, NNMT miR-126 2438 TNKS2, PTPRU, RGS14, NAP1L5 miR-378e 1044 IGF1R, CACNB2, RASIP1, API5, SCD5, SLC25A29 miR-7930-3p 1793 CABIN1, PCDHA2, PLXNA4
[sup][15] In addition, miR-27a has been reported to target microcephalin 1 (MCPH1) and regulate its expression in human renal carcinoma.
(21) Likewise, the genes ASPM and MCPH1 are implicated in the size of the brain, as well as PDYN, GLUD2, COX8, and CMAH which may change brain regulation, cerebral metabolism, and so forth.
The gene Microcephalin (MCPH1) regulates brain size and has evolved under strong positive selection in the human evolutionary lineage...We genotyped the diagnostic G37995C SNP in this panel to infer the frequency of haplogroup D chromosomes.
Here we report a patient with sporadic MCPH from Northwest of Iran who was investigated for MCPH1 locus.