Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

Mahmood, Saqib; Ahmad, Wasim; Hassan, Muhammad J

doi:10.1186/1750-1172-6-39

Orphanet Journal of Rare Diseases

Table 5 ASPM gene mutations in MCPH families from Pakistan

From: Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

Mutation	Language Group	State of Mutation	Present in No. of families from Pakistan	Reference
349C-T	Northern Pakistani	homozygous	One	[22]
719delCT	Northern Pakistani	homozygous	One	[74]
1258delTCTCAAT	Northern Pakistani	homozygous	Two	[22, 74]
9190C-T	Northern Pakistani	homozygous	One	[22]
2936+5G-T (intronic)	Northern Pakistani	homozygous	One	[74]
1990C-T	Northern Pakistani	homozygous	One	[74]
8508delGA	Sindi, Northern Pakistani	homozygous	Four	[16, 17, 19, 74]
3082G-A	Northern Pakistani	homozygous	One	[74]
4581delA	Northern Pakistani	homozygous	One	[74]
4795C-T	Northern Pakistani	homozygous	One	[74]
7895C-T	Northern Pakistani	homozygous	One	[74]
9159delA	Northern Pakistani	homozygous	Three	[22, 74, 105]
9557C-G	Hindko	homozygous	Three	[11, 74]
9984+1G-T (intronic)	Northern Pakistani	homozygous	One	[74]
3663delG	Northern Pakistani	homozygous	Two	[74]
1002delA	Pakistani	homozygous	One	[16]
2938C-T	Pakistani	homozygous	One	[16]
3055C-T	Pakistani	homozygous	One	[16]
7894C-T	Pakistani/heterozygous	Homozygous	Two	[16]
3477delCGCTA	Pakistani	Homozygous	One	[16]
6732delA	Pakistani	Homozygous	One	[16]
8668C-T	Pakistani	Homozygous	One	[16]
3978G-A	Pashto....	Heterozygous/homozygous	Eighteen	[11, 16, 17, 105]
9319C-T	Pakistani	heterozygous	One	[16]
9492T-G	Pakistani	homozygous	Three	[16, 105]
9595A-T	Pakistani	homozygous	One	[16]
9677insG	Pakistani	homozygous	One	[16]
9697C-T	Pakistani	homozygous	One	[16]
1260delTCAAGTC	Saraiki	homozygous	Two	[11, 105]
3188T-G	Pakistani	homozygous	One	[19]
4855delTA	Pakistani	homozygous	One	[19]
5136C-A	Sindhi	homozygous	One	[17]
5149delA	Saraiki	homozygous	One	[17]
6335delAT	Pakistani	homozygous	One	[24]
7761T-G	Pakistani	homozygous	Two	[19, 22]
7782delGA	Pakistani	homozygous	One	[19]
8378delT	Pakistani	homozygous	More than one	[19]
9118insCATT	Punjabi	homozygous	One	[11]
9238A-T	Punjabi	homozygous	Two	[11, 19]
9681delA	Pakistani	homozygous	One	[19]
9730C-T	Kashmiri	homozygous	One	[17]
9745delCT	Pakistani	homozygous	One	[19]
9789T-A	Pakistani	homozygous	One	[19]
10059C-A	Saraiki	homozygous	One	[17]
9539A-C	Sindi	homozygous	One	[11]
2101C-T	Pakistani	homozygous	One	[105]
6686delGAAA	Pakistani	homozygous	Two	[8, 105]
77delG	Pakistani	homozygous	Two	[8, 105]

Back to article page

ISSN: 1750-1172

Contact us

Submission enquiries: Access here and click Contact Us
General enquiries: info@biomedcentral.com