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Genetic causes of MCPH in consanguineous Pakistani families
Author(s) -
Kraemer Nadine,
PickerMinh Sylvie,
Abbasi Ansar A.,
Fröhler Sebastian,
Ninnemann Olaf,
Khan Muhammad N.,
Ali Ghazanfar,
Chen Wei,
Kaindl Angela M.
Publication year - 2016
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12685
Subject(s) - genetics , pedigree chart , genealogy , consanguinity , content (measure theory) , biology , geography , gene , history , mathematics , mathematical analysis
To the Editor: Autosomal recessive primary microcephaly (MCPH) is a rare and genetic heterogeneous neurodevelopmental disorder characterized by a pronounced reduction of brain volume and intellectual disability (1, 2). To date, 13 MCPH genes have been identified [reviewed in (3)], 8 of them in the last 5 years, showing the rapid progress in this field. Still, families with an MCPH phenotype who do not carry mutations in these known MCPH genes exist, indicating further genetic heterogeneity. Here, we report the results of a genetic study on a cohort of 15 consanguineous families (46 affected individuals) with an MCPH phenotype from the Azad Jammu and Kashmir (AJK) territory in Northern Pakistan (Table 1, Fig. S1, Supporting Information). All families were examined clinically on field trips with microcephaly and intellectual disability detected in all