A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2.

A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3.

G enetic conditions affecting hair structure or the hair growth cycle may be isolated or they may occur as part of complex syndromes with associated abnormalities of other ectodermal appendages. Defective hair structure caused by mutations in key hair structural proteins can result in severe alopecia. The best characterised conditions at the molecular level in this category are monilethrix (MIM...

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.

T he term hereditary spastic paraplegia (HSP) is used to describe a group of clinically and genetically heterogeneous disorders in which the defining clinical feature is progressive spasticity and weakness of the lower limbs. The phenotype is traditionally classified as ‘‘pure’’ when symptoms and signs are generally confined to those of a progressive spastic paraparesis, or ‘‘complicated’’ when...

a novel deletion mutation in aspm gene in an iranian family with autosomal recessive primary microcephaly

how to cite this article: akbarizar e, ebrahimpour m, akbari s, arzhanghi s, abedini ss, najmabadi h, kahrizi k. a novel deletion mutation in aspm gene in an iranian family with autosomal recessive primary microcephaly. iran j child neurol.  2013 spring;7(2):23-30.   objective autosomal recessive primary microcephaly (mcph) is a neurodevelopmental and genetically heterogeneous disorder with dec...

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation.

BACKGROUND AND OBJECTIVES Locus heterogeneity is well established in autosomal recessive primary microcephaly (MCPH) and to date five loci have been mapped. However, the relative contributions of these loci have not been assessed and genotype-phenotype correlations have not been investigated. DESIGN A study population of 56 consanguineous families resident in or originating from northern Paki...